Factor IX Variant Database

References

Publications listing F9 variants are listed below with a link to their PubMed abstracts. This database also contains unpublished variants curated in the same way as published variants.

Author	Year	Title	Pubmed
	1990	Abstracts of papers presented at a joint meeting of the British Society for Haemostasis and Thrombosis and Nederlandse Vereniging voor Trombose en Hemostase, Charing Cross and Westminster Medical School, London, 17-18 September 1990	2093364
Agarwala KL	1994	Activation peptide of human factor IX has oligosaccharides O-glycosidically linked to threonine residues at 159 and 169	8172892
Agrawal N	2022	Molecular analysis of severe hemophilia B in Indian families: Identification of mutational hotspot and novel variants	34590426
Aguilar-Martinez P	1994	Factor IX gene mutations causing haemophilia B: comparison of SSC screening versus systematic DNA sequencing and diagnostic applications	8076946
Aguilar-Martinez P	1994	A novel mutation (Val-373 to Glu) in the catalytic domain of factor IX, resulting in moderately/severe hemophilia B in a southern French patient	8199596
Al-Allaf FA	2017	Molecular Analysis of Factor VIII and Factor IX Genes in Hemophilia Patients: Identification of Novel Mutations and Molecular Dynamics Studies	28270892
Alkan M	1991	Factor IXBasel: a Swiss family with severe haemophilia B having a point mutation in EGF type B domain	2014182
Anson DS	1984	The gene structure of human anti-haemophilic factor IX	6329734
Anson DS	1988	Nullisomic deletion of the mcf.2 transforming gene in two haemophilia B patients	2846283
Arias-Moreno X	2013	Molecular characterization of 16 hemophilia B families in Aragon, Spain	23689273
Arruda VR	2001	Posttranslational modifications of recombinant myotube-synthesized human factor IX	11133752
Attali O	1999	Factor IX gene analysis in 70 unrelated patients with haemophilia B: description of 13 new mutations	10595634
Attree O	1989	Mutations in the catalytic domain of human coagulation factor IX: rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behavior	2714791
Awidi A	2011	FIX mutation spectrum in haemophilia B patients from Jordan: identification of three novel mutations	20695909
Bajaj SP	1990	Experimental and theoretical evidence supporting the role of Gly363 in blood coagulation factor IXa (Gly193 in chymotrypsin) for proper activation of the proenzyme	2303434
Balraj P	2012	Factor IX mutations in haemophilia B patients in Malaysia: a preliminary study	22870602
Belvini D	2005	Molecular genotyping of the Italian cohort of patients with hemophilia B.	15921378
Bentley AK	1986	Defective propeptide processing of blood clotting factor IX caused by mutation of arginine to glutamine at position -4	3009023
Bernardi F	1985	Gene deletion in an Italian haemophilia B subject	4045960
Bertina RM	1978	The abnormal factor IX of hemophilia B+ variants	734633
Bertina RM	1990	Mutations in hemophilia Bm occur at the Arg180-Val activation site or in the catalytic domain of factor IX	2162822
Bicocchi MP	2006	Insight into molecular changes of the FIX protein in a series of Italian patients with haemophilia B	16643212
Borràs N	2022	Molecular study of a large cohort of 109 haemophilia patients from Cuba using a gene panelwith next generation sequencing-based technology	34708896
Bottema CD	1989	Hemophilia B in a male with a four-base insertion that arose in the germline of his mother	2557585
Bottema CD	1989	Direct carrier testing in 14 families with haemophilia B	2570235
Bottema CD	1990	Mutations at arginine residues in two Asian hemophilia B patients	1970868
Bottema CD	1990	The pattern of factor IX germ-line mutation in Asians is similar to that of Caucasians	2220823
Bottema CD	1990	A past mutation at isoleucine 397 is now a common cause of moderate/mild haemophilia B	2372508
Bottema CD	1991	Missense mutations and evolutionary conservation of amino acids: evidence that many of the amino acids in factor IX function as 'spacer' elements	1680287
Bottema CD	1991	Why does the human factor IX gene have a G + C content of 40%?	1897528
Bottema CD	1993	The pattern of spontaneous germ-line mutation: relative rates of mutation at or near CpG dinucleotides in the factor IX gene	8314564
Branchini A	2022	F9 missense mutations impairing factor IX activation are associated with pleiotropic plasma phenotypes	34626083
Bray GL	1986	Partial factor IX protein in a pedigree with hemophilia B due to a partial gene deletion	3514676
Caglayan SH	1997	Mutations associated with hemophilia B in Turkish patients	9222764
Camerino G	1985	A new MspI restriction fragment length polymorphism in the hemophilia B locus	2411652
Cao DH	2014	Factor IX mutations in hemophilia B patients from Liaoning Province, China	24261420
Chan DK	2000	A comparison of polymorphism in the 3'-untranslated region of the prothrombin gene between Chinese and Caucasians in Australia	11167771
Chan V	1991	Molecular defects in haemophilia B: detection by direct restriction enzyme analysis	1680373
Chan V	1995	A new hemophilia B mutation in the propeptide region of the FIX gene	7572994
Chen SH	1985	An intragenic deletion of the factor IX gene in a family with hemophilia B	3001143
Chen SH	1988	An insertion within the factor IX gene: hemophilia BEl Salvador	2831715
Chen SH	1989	Three point mutations in the factor IX genes of five hemophilia B patients. Identification strategy using localization by altered epitopes in their hemophilic proteins	2472424
Chen SH	1989	Factor IXPortland: a nonsense mutation (CGA to TGA) resulting in hemophilia B	2929599
Chen SH	1990	Recombination between two 14-bp homologous sequences as the mechanism for gene deletion in factor IX Seattle 1	2239965
Chen SH	1991	Splice junction mutations in factor IX gene resulting in severe hemophilia B	2020563
Chen SH	1991	CG dinucleotide transitions in the factor IX gene account for about half of the point mutations in hemophilia B patients: a Seattle series	2066105
Chen SH	1995	Heteroduplex screening for molecular defects in factor IX genes from haemophilia B families	7873393
Chu K	1996	A mutation in the propeptide of Factor IX leads to warfarin sensitivity by a novel mechanism	8833911
Costa JM	2000	Fast and efficient mutation detection method using multiplex PCR and cycle sequencing--application to haemophilia B	10739381
Costa JM	2000	Somatic mosaicism and compound heterozygosity in female hemophilia B	10942410
Coyle TE	1994	Moderate hemophilia B Leyden: identification by polymerase chain reaction, sequencing, and oligomer restriction	7677806
Crossley M	1989	Unusual case of haemophilia B	2565449
Crossley M	1990	Disruption of a C/EBP binding site in the factor IX promoter is associated with haemophilia B	2342576
Crossley M	1990	A less severe form of Haemophilia B Leyden	2388855
Crossley M	1992	Recovery from hemophilia B Leyden: an androgen-responsive element in the factor IX promoter	1631558
David D	1993	Single-strand conformation polymorphism (SSCP) analysis of the molecular pathology of hemophilia B	8257988
David D	1998	Five novel factor IX mutations in unrelated hemophilia B patients	9452115
Davis LM	1987	Factor IXAlabama: a point mutation in a clotting protein results in hemophilia B	3790720
de la Salle C	1993	A deletion located in the 3' non translated part of the factor IX gene responsible for mild haemophilia B	8236150
Demers DB	1990	Identification of a factor IX point mutation using SSCP analysis and direct sequencing	2216751
Denton PH	1988	Hemophilia B Durham: a mutation in the first EGF-like domain of factor IX that is characterized by polymerase chain reaction	3262389
Di Scipio RG	1978	Activation of human factor IX (Christmas factor)	659613
Diuguid DL	1986	Molecular basis of hemophilia B: a defective enzyme due to an unprocessed propeptide is caused by a point mutation in the factor IX precursor	3461460
Diuguid DL	1989	Molecular defects of factor IX Chicago-2 (Arg 145----His) and prothrombin Madrid (Arg 271----cys): arginine mutations that preclude zymogen activation	2752109
Driscoll MC	1989	A codon 338 nonsense mutation in the factor IX gene in unrelated hemophilia B patients: factor IX338 New York	2752145
Driscoll MC	1996	Heteroduplex analysis in hemophilia B: detection of two novel factor IX gene mutations	8602635
El-Kamah GY	2021	Defining the molecular pathology and consequent phenotypes in Egyptian HB patients	33999344
Elmahmoudi H	2011	dentification of novel and recurrent mutations in Tunisian haemophilia B patients.	21118338
Enayat MS	2004	Mutation analysis in F9 gene of 17 families with haemophilia B from Iran	15569175
Figueiredo MS	1993	Molecular analysis of hemophilia B in Brazilian patients	8298527
Fraser BM	1992	Identification of factor IX mutations in haemophilia B: application of polymerase chain reaction and single strand conformation analysis	1740319
Freedenberg DL	1987	MspI polymorphic site within the factor IX gene. Localization of the site and an improved method for detection	2439437
Geddes VA	1989	A moderate form of hemophilia B is caused by a novel mutation in the protease domain of factor IXVancouver	2494175
Ghanem N	1993	Twenty-four novel hemophilia B mutations revealed by rapid scanning of the whole factor IX gene in a French population sample	8055323
Ghosh K	2009	Double mutations causing haemophilia B: a double whammy!	19236374
Ghosh K	2009	Spectrum of factor IX gene mutations causing haemophilia B from India	19357501
Giannelli F	1984	Characterisation and use of an intragenic polymorphic marker for detection of carriers of haemophilia B (factor IX deficiency)	6142992
Giannelli F	1991	Haemophilia B: database of point mutations and short additions and deletions--second edition	2041805
Giannelli F	1993	Haemophilia B: database of point mutations and short additions and deletions--fourth edition, 1993	8392713
Giannelli F	1994	Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994	7937052
Giannelli F	1996	Haemophilia B (sixth edition): a database of point mutations and short additions and deletions	8594556
Gonatas JO	1989	MG-160. A novel sialoglycoprotein of the medial cisternae of the Golgi apparatus [published eeratum appears in J Biol Chem 1989 Mar 5;264(7):4264]	2909545
Gostout B	1993	Germline mutations in the factor IX gene: a comparison of the pattern in Caucasians and non-Caucasians	8499919
Green PM	1988	Partial deletion by illegitimate recombination of the factor IX gene in a haemophilia B family with two inhibitor patients	3398774
Green PM	1989	Molecular pathology of haemophilia B	2743975
Green PM	1990	The incidence and distribution of CpG----TpG transitions in the coagulation factor IX gene. A fresh look at CpG mutational hotspots	1972560
Green PM	1991	Haemophilia B mutations in a complete Swedish population sample: a test of new strategy for the genetic counselling of diseases with high mutational heterogeneity	1873221
Green PM	1992	Haplotype analysis of identical factor IX mutants using PCR	1615486
Green PM	1993	Haemophilia B caused by a missense mutation in the prepeptide sequence of factor IX	8318985
Grunebaum L	1984	Carrier detection of Hemophilia B by using a restriction site polymorphism associated with the coagulation Factor IX gene	6325506
Guo ZP	2014	Comprehensive analysis of phenotypes and genetics in 21 Chinese families with haemophilia B: Characterization of five novel mutations	25251685
Halldén C	2013	Origin of Swedish hemophilia B mutations	24219067
Hamaguchi M	1991	Three distinct point mutations in the factor IX gene of three Japanese CRM+ hemophilia B patients (factor IX BMNagoya 2, factor IX Nagoya 3 and 4)	1871712
Handford PA	1991	Key residues involved in calcium-binding motifs in EGF-like domains	2030732
Haris II	1994	Mutation detection by fluorescent chemical cleavage: application to hemophilia B	8038695
Hase S	1988	A new trisaccharide sugar chain linked to a serine residue in bovine blood coagulation factors VII and IX	3149637
Hassan HJ	1985	Hemophilia B with inhibitor: molecular analysis of the subtotal deletion of the factor IX gene	2992643
Hay CW	1986	Use of a BamHI polymorphism in the factor IX gene for the determination of hemophilia B carrier status	3008893
Heit JA	1998	Germline mutations in Peruvian patients with hemophilia B: pattern of mutation in AmerIndians is similar to the putative endogenous germline pattern	9600455
Hirosawa S	1990	Structural and functional basis of the developmental regulation of human coagulation factor IX gene: factor IX Leyden	2352926
Hougie C	1967	Haemophilia Bm: a new type of factor-IX deficiency	4163943
Hrachovinova I	1992	[Detection of carriers of hemophilia B]	1288882
Hua B	2015	Coexisting congenital dysfibrinogenemia with a novel mutation in fibrinogen γ chain (γ322 Phe→Ile, Fibrinogen Beijing) and haemophilia B in a family	25982359
Huang L	2020	Molecular analysis of 76 Chinese hemophilia B pedigrees and the identification of 10 novel mutations	32875744
Huang MN	1989	Molecular defect in factor IXHilo, a hemophilia Bm variant: Arg----Gln at the carboxyterminal cleavage site of the activation peptide	2563663
Ivaskevicius V	2001	Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data	11298607
Jacobson DP	1993	Characterization of the patterns of polymorphism in a 'cryptic repeat' reveals a novel type of hypervariable sequence	8328460
Jagadeeswaran P	1984	Isolation and characterization of human factor IX cDNA: identification of Taq I polymorphism and regional assignment	6089357
Jaloma-Cruz AR	2000	Nine independent F9 mutations in the Mexican hemophilia B population: nonrandom recurrences of point mutation events in the human germline	10612837
Jayandharan G	2003	Identification of factor IX gene defects using a multiplex PCR and CSGE strategy-a first report.	12941051
Jayandharan G	2005	Novel missense mutations in two patients with factor XI deficiency (Val271Leu and Tyr351Ser) and one patient with combined factor XI and factor IX deficiency (Phe349Val).	15842381
Jayandharan G	2005	Molecular characterization of factor IX gene mutations in 53 patients with haemophilia B in India	16270648
Jayandharan GR	2009	Polymorphism in factor VII gene modifies phenotype of severe haemophilia	19686262
Jenkins PV	2008	Mutation analysis of haemophilia B in the Irish population: increased prevalence caused by founder effect	18479429
Johnsen JM	2017	Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiative	29296726
Jourdy Y	2016	Study of six patients with complete F9 deletion characterized by cytogenetic microarray: role of the SOX3 gene in intellectual disability	27477789
Kamiya T	1995	Retrospective study of inhibitor formation in Japanese hemophiliacs	8589362
Kao CY	2011	Characterisation of factor IX with a glycine-to-valine missense mutation at residue 190 in a patient with severe haemophilia B.	21301787
Ketterling RP	1991	Evidence that descendants of three founders constitute about 25% of hemophilia B in the United States	1916816
Ketterling RP	1991	T296----M, a common mutation causing mild hemophilia B in the Amish and others: founder effect, variability in factor IX activity assays, and rapid carrier detection	1864609
Ketterling RP	1993	Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation	8434583
Ketterling RP	1993	Deletions with inversions: report of a mutation and review of the literature	8477264
Ketterling RP	1994	The rates of G:C-->T:A and G:C-->C:G transversions at CpG dinucleotides in the human factor IX gene	8178822
Ketterling RP	1994	The rates and patterns of deletions in the human factor IX gene	8304338
Ketterling RP	1995	Two novel factor IX promoter mutations: incremental progress towards 'saturation in vivo mutagenesis' of a human promoter region	7633432
Ketterling RP	1999	Germline origins in the human F9 gene: frequent G:C-->A:T mosaicism and increased mutations with advanced maternal age	10647899
Khan MTM	2018	Mutation Spectrum and Genotype–Phenotype Analyses in a Pakistani Cohort With Hemophilia B	28752769
Knobloch O	1993	Recurrent mutations in the factor IX gene: founder effect or repeat de novo events. Investigation of the German haemophilia B population and review of de novo mutations	8365725
Knoll A	1996	Absence of somatic mosaicism in 17 families with hemophilia B: an analysis with a sensitivity 10- to 1000-fold greater than that of sequencing gels	8882872
Koeberl DD	1989	Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG	2773937
Koeberl DD	1990	Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene	2198809
Koeberl DD	1990	Recurrent nonsense mutations at arginine residues cause severe hemophilia B in unrelated hemophiliacs	1969838
Kulkarni S	2021	Mutation analysis and characterisation of F9 gene in haemophilia- B population of India	34880139
Kwon MJ	2008	Identification of mutations in the F9 gene including exon deletion by multiplex ligation-dependent probe amplification in 33 unrelated Korean patients with haemophilia B	18624698
Lago J	2021	Genetic and Bioinformatic Strategies to Improve Diagnosis in Three Inherited Bleeding Disorders in Bogotá, Colombia	34828413
Landrum MJ	2018	ClinVar: improving access to variant interpretations and supporting evidence	29165669
Lannoy N	2017	Usual and unusual mutations in a cohort of Belgian patients with hemophilia B	27865967
Li T	2014	Mutation analysis of a cohort of US patients with hemophilia B	24375831
Li X	2000	Factor IX mutations in South Africans and African Americans are compatible with primarily endogenous influences upon recent germline mutations	11013449
Liddell MB	1989	Factor IX Cardiff: a variant factor IX protein that shows abnormal activation is caused by an arginine to cysteine substitution at position 145	2775660
Liddell MB	1989	Defective propeptide processing and abnormal activation underlie the molecular pathology of factor IX Troed-y-Rhiw	2788012
Lin PC	2014	Efficient detection of factor IX mutations by denaturing high-performance liquid chromatography in Taiwanese hemophilia B patients, and the identification of two novel mutations	24656159
Lin SW	1991	Characterization of genetic defects of hemophilia B of Chinese origin	1796396
Lin SW	1993	Genetic basis and carrier detection of hemophilia B of Chinese origin	8470048
Liu JZ	2000	The human factor IX gene as germline mutagen test: samples from Mainland China have the putatively endogenous pattern of mutation	10874302
Liu Q	1997	Inhibition of PCR amplification by a point mutation downstream of a primer	9043701
Ljung R	2001	Haemophilia B mutations in Sweden: a population-based study of mutational heterogeneity	11328285
Lozier JN	1990	Factor IX New London: substitution of proline for glutamine at position 50 causes severe hemophilia B	2306516
Lu Z	2021	The novel mutation p.Asp315Tyr causes severe hemophilia B by impairing coagulation factor IX expression	33249248
Ludwig M	1988	Haemophilia B+ with inhibitor	3388303
Ludwig M	1989	Identification of a single nucleotide C-to-T transition and five different deletions in patients with severe hemophilia B	2741941
Ludwig M	1991	Prenatal diagnosis of haemophilia B by the use of polymerase chain reaction and direct sequencing	1674559
Ludwig M	1992	Hemophilia B caused by five different nondeletion mutations in the protease domain of factor IX	1346975
Ludwig M	1992	Parental origin of factor IX gene mutations, and their distribution in the gene	1346077
Lv X	2019	Genetic analysis of a hemophilia B family with a novel F9 gene mutation	31124946
Maekawa H	1991	Structural analysis of anomalies in Tokyo Factor Ix: val-182 Substitution of Ala	Abstract 95
Mahajan A	2004	Molecular characterization of hemophilia B in North Indian families: identification of novel and recurrent molecular events in the factor IX gene.	15590401
Mahajan A	2007	Allelic heterogeneity of molecular events in human coagulation factor IX in Asian Indians.	17397055
Mårtensson A	2016	Mutation analysis of Swedish haemophilia B families - high frequency of unique mutations	26612714
Matsushita T	1990	DNA sequence analysis of three inhibitor-positive hemophilia B patients without gross gene deletion: identification of four novel mutations in factor IX gene	2212858
Matthews RJ	1987	Heterogeneity of the factor IX locus in nine hemophilia B inhibitor patients	3029178
McGraw RA	1985	Evidence for a prevalent dimorphism in the activation peptide of human coagulation factor IX	3857619
Meireles MR	2017	Molecular characterization of haemophilia B patients in southern Brazil	28722788
Mikami S	1987	RFLPs of factor IX gene in Japanese haemophilia B families and gene deletion in two high-responder-inhibitor patients	2886685
Miller CH	2012	F8 and F9 mutations in US haemophilia patients: correlation with history of inhibitor and race/ethnicity.	22103590
Miyata T	1991	Factor IX Amagasaki: a new mutation in the catalytic domain resulting in the loss of both coagulant and esterase activities	1958666
Miyata T	1994	Factor IX Bm Kiryu: a Val-313-to-Asp substitution in the catalytic domain results in loss of function due to a conformational change of the surface loop: evidence obtained by chimaeric modelling	7803238
Monroe DM	1989	Functional consequences of an arginine180 to glutamine mutation in factor IX Hilo	2713493
Montandon AJ	1989	Direct detection of point mutations by mismatch analysis: application to haemophilia B	2726481
Montandon AJ	1990	Two factor IX mutations in the family of an isolated haemophilia B patient: direct carrier diagnosis by amplification mismatch detection (AMD)	2370049
Montejo JM	1999	Identification of twenty-one new mutations in the factor IX gene by SSCP analysis	10094553
Morgan GE	1995	The high frequency of the -6G-->A factor IX promoter mutation is the result both of a founder effect and recurrent mutation at a CpG dinucleotide	7734378
Morita T	1984	Derivatives of blood coagulation factor IX contain a high affinity Ca2+-binding site that lacks gamma-carboxyglutamic acid	6425296
Mukherjee S	2004	Molecular pathology of haemophilia B: identification of five novel mutations including a LINE 1 insertion in Indian patients	15086324
Nakamura Y	2016	Distinct X chromosomal rearrangements in four haemophilia B patients with entire F9 deletion	26686734
Nawaz N	2008	Molecular Basis of Hemophilia B in Pakistan: Identification of Two Novel Mutations	>>
Nguyen P	1995	A new case of severe hemophilia B Leyden, associated with a G to C mutation at position -6 of the factor IX promoter	7604825
Niazi G	2009	Novel human pathological mutations. Gene symbol: F9. Disease: Haemophilia B.	19693996
Niceta M	2006	A novel nonsense mutation in exon 2 of the factor IX gene resulting in severe haemophilia B	17217158
Nielsen LR	1992	Screening for mutations in the gene encoding factor IX	1357229
Nielsen LR	1995	Detection of ten new mutations by screening the gene encoding factor IX of Danish hemophilia B patients	7482402
Nishimura H	1992	Human factor IX has a tetrasaccharide O-glycosidically linked to serine 61 through the fucose residue	1517205
Noyes CM	1983	Identification of the molecular defect in factor IX Chapel Hill: substitution of histidine for arginine at position 145	6603618
Odom MW		Five novel point mutations: two causing haemophilia B and three causing factor X deficiency	8028609
Oldenburg J	1997	Missense mutations at ALA-10 in the factor IX propeptide: an insignificant variant in normal life but a decisive cause of bleeding during oral anticoagulant therapy	9233593
Onay UV	2003	Molecular pathology of haemophilia B in Turkish patients: identification of a large deletion and 33 independent point mutations	12588353
Pang CP	1990	Comparative sequence analysis of mammalian factor IX promoters	2251157
Park CH	2013	Mild haemophilia B from a novel missense mutation Ser350Ala of the F9 gene	23492913
Parrado Jara Y	2020	Molecular characterization of hemophilia B patients in Colombia	32155688
Picketts DJ	1993	Synergy between transcription factors DBP and C/EBP compensates for a haemophilia B Leyden factor IX mutation	8499951
Poon MC	1987	Hemophilia B (Christmas disease) variants and carrier detection analyzed by DNA probes	2881949
Poon MC	1993	Hemophilia B carrier determination based on family-specific mutation detection by DNA single-strand conformation analysis	8320491
Poort SR	1989	A Dutch pedigree with mild hemophilia B with a missense mutation in the first EGF domain (factor IXOud en Nieuw Gastel)	2762170
Poort SR	1989	A Dutch family with moderately severe hemophilia B (factor IXHeerde) has a missense mutation identical to that of factor IX London 2	2726505
Poort SR	1990	Two mutations of the factor IX gene including a donor splice consensus deletion and a point mutation in a Dutch patient with severe hemophilia B	2096489
Quadros L	2009	Novel mutations in factor IX gene from western India with reference to their phenotypic and haplotypic attributes.	19262239
Radic CP	2013	Assessment of the F9 genotype-specific FIX inhibitor risks and characterisation of 10 novel severe F9 defects in the first molecular series of Argentinian patients with haemophilia B	23093250
Rai HK	1996	A-793 G to A transition in the factor IX gene promoter is polymorphic in the Caucasian population	8603026
Rao KJ	1990	Human factor IXLincoln Park: a molecular characterization	1980717
Rees DJ	1985	Haemophilia B caused by a point mutation in a donor splice junction of the human factor IX gene	4033760
Reijnen MJ	1993	Hemophilia B Leyden: substitution of thymine for guanine at position -21 results in a disruption of a hepatocyte nuclear factor 4 binding site in the factor IX promoter	8324220
Reitsma PH	1988	The putative factor IX gene promoter in hemophilia B Leyden	3416069
Reitsma PH	1989	Two novel point mutations correlate with an altered developmental expression of blood coagulation factor IX (hemophilia B Leyden phenotype)	2917196
Roberts HR	1993	Molecular biology of hemophilia B	8236083
Rogaev EI	2009	Genotype Analysis Identifies the Cause of the Royal Disease	19815722
Rowley G	1995	Ultrarapid mutation detection by multiplex, solid-phase chemical cleavage	8825645
Royle G	1991	Haemophilia B Leyden arising de novo by point mutation in the putative factor IX promoter region	2004020
Rydz N	2013	The Canadian National program for hemophilia mutation testing database: A ten-year review	23913812
Saad S	1994	First report on UK database of haemophilia B mutations and pedigrees. UK Haemophilia Centres	8091381
Saini S	2015	Genetic determinants of immunogenicity to factor IX during the treatment of haemophilia B	25470321
Sakai T	1989	Blood clotting factor IX Kashihara: amino acid substitution of valine-182 by phenylalanine	2753873
Salviato R	2019	High resolution melting for F9 gene mutation analysis in patients with haemophilia B	29517974
Sankari Devi G	2013	Fluorescent PCR-based gene dose analysis for detection of deletion mutations in carriers of haemophilia	23855319
Sarkar G	1991	Segments containing alternating purine and pyrimidine dinucleotides: patterns of polymorphism in humans and prevalence throughout phylogeny	2011533
Satoh C	1993	Variations among Japanese of the factor IX gene (F9) detected by PCR-denaturing gradient gel electrophoresis	8434584
Schach BG	1987	Hemophilia B (factor IXSeattle 2) due to a single nucleotide deletion in the gene for factor IX	2821070
Seita I	2009	Double mutation, a 2-bp deletion and Val211Ile, in the blood coagulation factor IX gene of a patient with severe hemophilia B	19522246
Sherry ST	1999	dbSNP-database for single nucleotide polymorphisms and other classes of minor genetic variation	10447503
Shinozawa K	2021	Genetic analysis of carrier status in female members of Japanese hemophilia families	33760382
Siguret V	1988	Identification of a CpG mutation in the coagulation factor-IX gene by analysis of amplified DNA sequences	3219291
Simioni P	2009	X-linked thrombophilia with a mutant factor IX (factor IX Padua).	19846852
Solera J	1991	Identification of a new haemophilia BM case produced by a mutation located at the carboxy terminal cleavage site of activation peptide	1651755
Solera J	1992	Factor IXMadrid 2: a deletion/insertion in factor IX gene which abolishes the sequence of the donor junction at the exon IV-intron d splice site	1346483
Sommer SS	1995	Germline mosaicism in a female who seemed to be a carrier by sequence analysis	8589701
Sommer SS	1996	The factor IX gene as a model for analysis of human germline mutations: an update	8875257
Spitzer SG	1988	Molecular defect in factor IXBm Lake Elsinore. Substitution of Ala390 by Val in the catalytic domain	3392024
Spitzer SG	1990	Factor IXHollywood: substitution of Pro55 by Ala in the first epidermal growth factor-like domain	2169923
Spitzer SG	1990	Replacement of isoleucine-397 by threonine in the clotting proteinase factor IXa (Los Angeles and Long Beach variants) affects macromolecular catalysis but not L-tosylarginine methyl ester hydrolysis. Lack of correlation between the ox brain prothrombin time and the mutation site in the variant proteins	2105717
Stowell KM	1993	Haemophilia B Liverpool: a new British family with mild haemophilia B associated with a -6 G to A mutation in the factor IX promoter	8251390
Suehiro K	1990	Blood clotting factor IX Nagoya 3: the molecular defect of zymogen activation caused by an arginine-145 to histidine substitution	2087690
Sugimoto M	1988	Blood clotting factor IX Niigata: substitution of alanine-390 by valine in the catalytic domain	3243764
Sugimoto M	1989	Factor IX Kawachinagano: impaired function of the Gla-domain caused by attached propeptide region due to substitution of arginine by glutamine at position -4	2757966
Sukarova Stefanovska EP	2015	Identification of six novel F9 mutations among haemophilia B patients from Macedonia and Bulgaria	25582609
Surin VL	2016	Mutational analysis of hemophilia B in Russia: Molecular-genetic study	27529981
Tamura A	2021	Early elevation of factor IX level in japanese brothers with Haemophilia B Leyden who are carrying c. -35 g>a mutations in the promoter region of F9	33427373
Tanimoto M	1988	DNA analysis of seven patients with hemophilia B who have anti-factor IX antibodies: relationship to clinical manifestations and evidence that the abnormal gene was inherited	3411192
Tartary M	1993	Detection of a molecular defect in 40 of 44 patients with haemophilia B by PCR and denaturing gradient gel electrophoresis	8217825
Taylor SA	1988	A complete deletion of the factor IX gene and new TaqI variant in a hemophilia B kindred	2841226
Taylor SA	1990	A mutation adjacent to the beta cleavage site of factor IX (valine 182 to leucine) results in mild haemophilia Bm	2372509
Taylor SA	1991	Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency)	1986380
Thompson AR	1990	Founder' effect in different families with haemophilia B mutation	1968152
Thompson AR	1991	Molecular biology of the hemophilias	1901173
Thompson AR	1992	Factor IX mutations: rapid, direct screening methods for 20 new families with hemophilia B	1579901
Thompson AR	1993	Characterization of factor IX defects in hemophilia B patients	8412791
Thompson AR	1994	Germ line origins of de novo mutations in hemophilia B families	8076948
Thorland EC	1995	Molecular epidemiology of factor IX germline mutations in Mexican Hispanics: pattern of mutation and potential founder effects	8772212
Tsang TC	1988	A factor IX mutation, verified by direct genomic sequencing, causes haemophilia B by a novel mechanism	3181127
Van De Water NS	1996	Factor IX gene mutations in haemophilia B: a New Zealand population-based study	>>
Vidal F	2000	Factor IX gene sequencing by a simple and sensitive 15-hour procedure for haemophilia B diagnosis: identification of two novel mutations	11122099
Vidaud D	1993	Haemophilia B due to a de novo insertion of a human-specific Alu subfamily member within the coding region of the factor IX gene	8069649
Vidaud M	1986	A de novo intragenic deletion of the potential EGF domain of the factor IX gene in a family with severe hemophilia B	2875754
Vielhaber E	1993	A mutation in the 3' untranslated region of the factor IX gene in four families with hemophilia B	8401514
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Wallmark A	1985	Polymorphism of normal factor IX detected by mouse monoclonal antibodies	3873655
Wang NS	1990	Point mutations in four hemophilia B patients from China	2270538
Wang NS	1990	Factor IX Chongqing: a new mutation in the calcium-binding domain of factor IX resulting in severe hemophilia B	2339358
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Wang X	2020	Normal activated partial thromboplastin time in Chinese patients with mild hemophilia B	33295842
Ware J	1988	Genetic defect responsible for the dysfunctional protein: factor IXLong Beach	3401602
Ware J	1989	Factor IX San Dimas. Substitution of glutamine for Arg-4 in the propeptide leads to incomplete gamma-carboxylation and altered phospholipid binding properties	2738071
Weinmann AF	1998	Consequences of factor IX mutations in 26 families with haemophilia B	9450791
Wheeler RB	2015	The first report of a multi-exon duplication in the F9 gene causative of severe haemophilia B	26389844
Wilton K	1997	XVI Congress of the International Society on Thrombosis and Haemostasis. Florence, Italy, June 6-12, 1997. Abstracts	9239224
Winship PR	1984	Carrier detection in haemophilia B using two further intragenic restriction fragment length polymorphisms	6096810
Winship PR	1986	Diagnosis of haemophilia B carriers using intragenic oligonucleotide probes	2873459
Winship PR	1989	Detection of polymorphisms at cytosine phosphoguanadine dinucleotides and diagnosis of haemophilia B carriers	2564457
Winship PR	1990	Haemophilia B caused by mutation of a potential thrombin cleavage site in factor IX	2320433
Winship PR	1991	Identification of haemophilia B patients with mutations in the two calcium binding domains of factor IX: importance of a beta-OH Asp 64----Asn change	1998585
Winship PR	1993	An MseI RFLP in the 5' flanking region of the factor IX gene: its use for haemophilia B carrier detection in Caucasian and Thai populations	8101718
Wu X	2014	Characterisation of large F9 deletions in seven unrelated patients with severe haemophilia B	24816826
Wulff K	1995	Twenty-five novel mutations of the factor IX gene in haemophilia B	8680410
Wulff K	1999	Molecular analysis of hemophilia B in Poland: 12 novel mutations of the factor IX gene	10698280
Xie X	2019	Characterization of two large duplications of F9 associated with mild and severe haemophilia B, respectively	30866119
Yamashita A	2017	First case report of hemophilia B Leyden in Japan	28168417
Yan J B	2005	The current feature of the study on human coagulation factor IX mutant	16257919
Yang C	2018	A novel missense mutation, p.Phe360Cys, in FIX gene results in haemophilia B in a female patient with skewed X-inactivation	29405493
Yang Y	1994	Two-step selective formation of three disulfide bridges in the synthesis of the C-terminal epidermal growth factor-like domain in human blood coagulation factor IX	7987222
Yi S	2020	A novel missense mutation in F9 gene causes hemophilia B in a family with clinical variability	31904612
Yoshitake S	1985	Nucleotide sequence of the gene for human factor IX (antihemophilic factor B)	2994716
Yu T	2012	Spectrum of F9 mutations in Chinese haemophilia B patients: identification of 20 novel mutations.	22544209
Zahari M	2018	Mutational profiles of F8 and F9 in a cohort of Haemophilia A and Haemophilia B patients in the multi-ethnic Malaysian population	30210749
Zhang M	1989	The factor IX BamHI polymorphism: T-to-G transversion at the nucleotide sequence -561. The BamHI/MSPI haplotypes in blacks and Caucasians	2567277
Zhou J	2015	Risk factors associated with inhibitor development in Chinese patients with haemophilia B	25929987

Factor IX Variant Database

Factor IX Gene (F9)

Variant Database

References

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Pubmed