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 This database also contains unpublished variants curated in the same way as published variants.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
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
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
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
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
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
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
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
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
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
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
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
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
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 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
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
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
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
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
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
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
Saad S 1994
First report on UK database of haemophilia B mutations and pedigrees. UK Haemophilia Centres
8091381
Sakai T 1989
Blood clotting factor IX Kashihara: amino acid substitution of valine-182 by phenylalanine
2753873
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
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
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
Wadelius C 1988
Molecular studies of haemophilia B in Sweden. Identification of patients with total deletion of the factor IX gene and without inhibitory antibodies
2848757
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
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
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
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
Yan J B 2005
The current feature of the study on human coagulation factor IX mutant
16257919
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
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
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
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