Reference |
Title |
PMID |
|
Abdi et al 2017 |
Prevalence of common hereditary risk factors for thrombophilia in Somalia and identification of a novel Gln544Arg mutation in coagulation factor V |
28889200
|
|
Ajzner et al 2002 |
Severe coagulation factor V deficiency caused by 2 novel frameshift mutations: 2952delT in exon 13 and 5493insG in exon 16 of factor 5 gene |
11781258
|
|
Al-Numair et al 2019 |
First description of the molecular and clinical characterization of hereditary factor V deficiency in Saudi Arabia: report of four novel mutations |
31268865
|
|
Asselta et al 2003A |
Severe factor V deficiency: exon skipping in the factor V gene causing a partial deletion of the C1 domain |
12871325
|
|
Asselta et al 2003B |
The discovery of Mary's mutation |
12871526
|
|
Asselta et al 2004 |
Rescue of activated protein C-resistance phenotype by cis-acting factor V Gly2032Asp mutation |
15194551
|
|
Asselta et al 2006 |
Coagulation factor V gene analysis in five Indian patients: identification of three novel small deletions |
17145618
|
|
Bafunno et al 2012 |
Coinheritance of three novel FV gene mutations in a patient with a severe FV deficiency |
22251029
|
|
Baz et al 2021 |
Molecular classification of blood and bleeding disorder genes |
NA
|
|
Bernal et al 2021 |
High Mutational Heterogeneity, and New Mutations in the Human Coagulation Factor V Gene. Future Perspectives for Factor V Deficiency Using Recombinant and Advanced Therapies |
34575869
|
|
Bertina et al 1994 |
Mutation in blood coagulation factor V associated with resistance to activated protein C |
8164741
|
|
Bezemer et al 2010 |
Updated analysis of gene variants associated with deep vein thrombosis |
20124536
|
|
Borhany et al 2019 |
Molecular analysis of eight severe FV-deficient patients in Pakistan: A large series of homozygous for frameshift mutations |
30924984
|
|
Bossone et al 2002 |
Factor V Arg2074Cys: a novel missense mutation in the C2 domain of factor V |
12038802
|
|
Bossone et al 2003 |
The factor V (FV) gene ASP79HIS polymorphism modulates FV plasma levels and affects the activated protein C resistance phenotype in presence of the FV Leiden mutation |
12651267
|
|
Brodard et al 2020 |
Severe Factor V Deficiency Caused by Two Novel Pathological |
NA
|
|
Cai et al 2007 |
Factor V C1149G and 5609-10INSCGTGGTT causing factor V deficiency: molecular characterization by in-vitro expression |
17849061
|
|
Cai et al 2010 |
A novel mutation (g2172-->c) in the factor V gene in a Chinese family with hereditary activated protein C resistance |
20304467
|
|
Calzavarini et al 2013 |
Molecular basis of coagulation factor V deficiency caused by the R1698W inter-domain mutation |
23616041
|
|
Cao et al 2008 |
[Gene analysis of five inherited factor V deficiency cases] |
18788609
|
|
Cao et al 2011 |
Gene analysis and prenatal diagnosis for two families of congenital factor V deficiency |
20722745
|
|
Cargill et al 1999 |
Characterization of single-nucleotide polymorphisms in coding regions of human genes |
10391209
|
|
Castaman et al 1997 |
Phenotypic homozygous activated protein C resistance associated with compound heterozygosity for Arg506Gln (factor V Leiden) and His1299Arg substitutions in factor V |
9375735
|
|
Castoldi et al 1998 |
Molecular bases of pseudo-homozygous APC resistance: the compound heterozygosity for FV R506Q and a FV null mutation results in the exclusive presence of FV Leiden molecules in plasma |
9759618
|
|
Castoldi et al 2000A |
Combinations of 4 mutations (FV R506Q, FV H1299R, FV Y1702C, PT 20210G/A) affecting the prothrombinase complex in a thrombophilic family |
10942390
|
|
Castoldi et al 2000B |
Mutations in the R2 FV gene affect the ratio between the two FV isoforms in plasma |
10744138
|
|
Castoldi et al 2001 |
A missense mutation (Y1702C) in the coagulation factor V gene is a frequent cause of factor V deficiency in the Italian population |
11418372
|
|
Castoldi et al 2004 |
Impaired APC cofactor activity of factor V plays a major role in the APC resistance associated with the factor V Leiden (R506Q) and R2 (H1299R) mutations |
14976057
|
|
Castoldi et al 2011 |
Homozygous F5 deep-intronic splicing mutation resulting in severe factor V deficiency and undetectable thrombin generation in platelet-rich plasma |
21320286
|
|
Castoldi et al 2020 |
Characterisation of a Novel F5 Gene Mutation (Ala2114Asp, Factor V Besan |
NA
|
|
Caudill et al 2007 |
Severe coagulation factor V deficiency associated with an interstitial deletion of chromosome 1q |
17166249
|
|
Chan et al 1998 |
A novel mutation of Arg306 of factor V gene in Hong Kong Chinese |
9454741
|
|
Chapla et al 2011 |
Molecular basis of hereditary factor V deficiency in India: identification of four novel mutations and their genotype-phenotype correlation |
21647534
|
|
Chegeni et al 2007 |
Factor V mutations in Iranian patients with activated protein C resistance and venous thrombosis |
16542711
|
|
Chen et al 2005 |
Gly392Cys missense mutation in the A2 domain of factor V causing severe factor V deficiency: molecular characterization by expression of the recombinant protein |
15735820
|
|
Coppola et al 2010 |
Management of patients with factor V deficiency: open issues from the challenging history of a woman with anaphylactic transfusion reactions |
20028426
|
|
Cunha et al 2015 |
A novel mutation in the F5 gene (factor V Amsterdam) associated with bleeding independent of factor V procoagulant function |
25634741
|
|
Cutler et al 2010 |
Molecular characterization of 11 novel mutations in patients with heterozygous and homozygous FV deficiency |
20546033
|
|
Dall'Osso et al 2008 |
Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern |
18728029
|
|
Dargaud et al 2003 |
Two novel factor V null mutations associated with activated protein C resistance phenotype/genotype discrepancy |
14531918
|
|
de Visser et al 2000 |
The HR2 haplotype of factor V: effects on factor V levels, normalized activated protein C sensitivity ratios and the risk of venous thrombosis |
10780320
|
|
Delev et al 2008 |
Modelling and expression studies of two novel mutations causing factor V deficiency |
18989519
|
|
Delev et al 2009 |
Factor 5 mutation profile in German patients with homozygous and heterozygous factor V deficiency |
19486170
|
|
Deng et al 2021 |
Hereditary factor V deficiency from heterozygous mutations with a novel variant p.Pro798Leufs?13 in the |
34102654
|
|
Duckers et al 2010 |
Residual platelet factor V ensures thrombin generation in patients with severe congenital factor V deficiency and mild bleeding symptoms |
19861681
|
|
Duga et al 2003 |
Arg2074Cys missense mutation in the C2 domain of factor V causing moderately severe factor V deficiency: molecular characterization by expression of the recombinant protein |
12393490
|
|
Duga et al 2004 |
Coagulation factor V |
15147718
|
|
Frotscher et al 2012 |
Severe factor V deficiency in two brothers with different clinical presentations |
22758216
|
|
Fu et al 2003 |
Type I coagulation factor V deficiency caused by compound heterozygous mutation of F5 gene |
14511309
|
|
Fu et al 2003A |
[Identification of a novel mutation of human blood coagulation FV gene associated with congenital FV deficiency] |
12697120
|
|
Fu et al 2003B |
[A novel molecular mechanism of congenital FV deficiency: mutation in the intron acceptor splice site of human blood coagulation FV gene] |
12757640
|
|
Fu et al 2004 |
Identification of three F5 gene mutations associated with inherited coagulation factor V deficiency in two Chinese pedigrees |
15086325
|
|
Gandrille et al 1995 |
Incidence of activated protein C resistance caused by the ARG 506 GLN mutation in factor V in 113 unrelated symptomatic protein C-deficient patients. The French Network on the behalf of INSERM |
7795227
|
|
Guasch et al 1997 |
Molecular characterization of a type I quantitative factor V deficiency in a thrombosis patient that is pseudo homozygous for activated protein C resistance |
9157576
|
|
Guasch et al 1998 |
Severe coagulation factor V deficiency caused by a 4 bp deletion in the factor V gene |
9576178
|
|
Guella et al 2011 |
Identification of the first Alu-mediated large deletion involving the F5 gene in a compound heterozygous patient with severe factor V deficiency |
21614419
|
|
Guzman et al 2015 |
Three novel variants in the coagulation factor V gene associated with deep venous thrombosis in Chilean patients with Amerindian ethnic background |
25668227
|
|
Hiyoshi et al 1998 |
A polymorphism nt 1628G-->A (R485K) in exon 10 of the coagulation factor V gene may be a risk factor for thrombosis in the indigenous Thai population |
9798997
|
|
Honxiang et al 2019 |
[Phenotypic and genetic analysis of a pedigree affected with hereditary FV deficiency due to a novel deletional variant of F5 gene] |
31703135
|
|
Hou et al 2003 |
[A novel mutation causes congenital factor V deficiency] |
14575586
|
|
Huang et al 2010 |
[Analysis of phenotype and genotype in four Chinese pedigrees with inherited coagulation factor V deficiency] |
20510101
|
|
Jadaon et al 2006 |
Factor V Kuwait: a novel mutation in the coagulation factor V gene discovered in Kuwait |
16484835
|
|
Janicki et al 2013 |
Targeted next-generation resequencing of f5 gene identifies novel multiple variants pattern in severe hereditary factor v deficiency |
23662219
|
|
Jin et al 2009 |
Ser234Leu missense mutation in the A1 domain of factor V causing moderate factor V deficiency in a Chinese family |
19900106
|
|
Jones et al 2007 |
Molecular characterization and subcellular localization of Tyr478del: a pathogenic in-frame deletion in coagulation factor V |
17269939
|
|
Kanaji et al 2009 |
Identification of four novel mutations in F5 associated with congenital factor V deficiency |
19052695
|
|
Kling et al 2006 |
Factor V deficiency caused by a novel missense mutation, Ile417Thr, in the A2 domain |
16420587
|
|
Kostka et al 1999 |
New missense mutation in exon 13 (N789T) of the coagulation factor V gene |
10502835
|
|
Kostka et al 2000 |
Frequency of polymorphisms in the B-domain of factor V gene in APC-resistant patients |
10974338
|
|
Kovacs et al 2009 |
Inherited factor V deficiency associated with a novel heterozygous missense mutation (p.G493R) in a patient with excessive surgical bleeding |
19806267
|
|
Kuang et al 2001 |
Characterization of a novel autosomal dominant bleeding disorder in a large kindred from east Texas |
11238089
|
|
Lak et al 1998 |
Symptoms of inherited factor V deficiency in 35 Iranian patients |
9886321
|
|
Le et al 2000 |
Arg485Lys polymorphism of factor V increases the risk of coronary artery disease in a Chinese population |
11776127
|
|
Liu et al 2014A |
Functional characterization of a novel missense mutation, His147Arg, in A1 domain of FV protein causing type II deficiency |
24787990
|
|
Liu et al 2014B |
Asp68His mutation in the A1 domain of human factor V causes impaired secretion and ineffective translocation |
24893683
|
|
Liu et al 2020 |
A novel homozygous mutation (Gly1715Ser) causing hereditary factor V deficiency in a Chinese patient |
31789663
|
|
Lunghi et al 1996 |
Detection of new polymorphic markers in the factor V gene: association with factor V levels in plasma |
8713778
|
|
Lunghi et al 1998 |
A novel factor V null mutation detected in a thrombophilic patient with pseudo-homozygous APC resistance and in an asymptomatic unrelated subject |
9694743
|
|
Lunghi et al 2005A |
Does factor V Asp79His (409 G/C) polymorphism influence factor V and APC resistance levels? |
15670066
|
|
Lunghi et al 2005B |
The factor V Glu1608Lys mutation is recurrent in familial thrombophilia |
15975136
|
|
Lunghi et al 2008 |
Evaluation of factor V mRNA to define the residual factor V expression levels in severe factor V deficiency |
18310546
|
|
Maharaj et al 2021 |
Novel |
33769317
|
|
Mirochnik et al 1999 |
A novel factor V null mutation at Arg 506 causes a false positive Factor V Leiden result |
10494790
|
|
Mohan et al 2020 |
[Identification of a novel variant of F5 gene in a consanguineous pedigree affected with inherited coagulation factor V deficiency] |
32335873
|
|
Montefusco et al 2000A |
A novel two base pair deletion in the factor V gene associated with severe factor V deficiency |
11167768
|
|
Montefusco et al 2000B |
Concerns about the mutations identified in a case of familial coagulation factor V deficiency: factor V Stanford |
11154134
|
|
Montefusco et al 2003 |
Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V: Broadening of the mutational spectrum of factor V gene and in vitro analysis of the newly identified missense mutations |
12816860
|
|
Moret et al 2019 |
Next generation sequencing in bleeding disorders: two novel variants in the F5 gene (Valencia-1 and Valencia-2) associated with mild factor V deficiency |
31267299
|
|
Mumford et al 2003 |
Factor V I359T: a novel mutation associated with thrombosis and resistance to activated protein C |
14617013
|
|
Murray et al 1995 |
Factor V New Brunswick: Ala221-to-Val substitution results in reduced cofactor activity |
7655011
|
|
NCBI Clinvar |
Clinvar |
NA
|
|
Nogami et al 2014 |
Novel FV mutation (W1920R, FVNara) associated with serious deep vein thrombosis and more potent APC resistance relative to FVLeiden |
24523236
|
|
Nuzzo et al 2015A |
Characterization of an apparently synonymous F5 mutation causing aberrant splicing and factor V deficiency |
25470420
|
|
Nuzzo et al 2015B |
Identification of a novel large deletion in a patient with severe factor V deficiency using an in-house F5 MLPA assay |
25438872
|
|
Nuzzo et al 2017 |
High incidence of intracranial bleeding in factor V-deficient patients with homozygous F5 splicing mutations |
27351627
|
|
Paraboschi et al 2012 |
Functional characterization of a novel missense mutation identified in a Turkish patient affected by severe coagulation factor V deficiency |
21777354
|
|
Paraboschi et al 2019 |
Understanding the Impact of Aberrant Splicing in Coagulation Factor V Deficiency |
30791524
|
|
Paraboschi et al 2020 |
Profiling the mutational landscape of coagulation factor V deficiency |
31399523
|
|
Park et al 2016 |
Genetic Confirmation of Congenital Factor V Deficiency in Korean Patients |
26709270
|
|
Park et al 2019 |
Congenital factor V deficiency from compound heterozygous mutations with a novel variant c.2426del (p.Pro809Hisfs*2) in the F5 gene: A case report |
32000417
|
|
Peyvandi et al 2002 |
Rare coagulation deficiencies |
12010428
|
|
Pruller et al 2013 |
A novel factor V mutation causes a normal activated protein C ratio despite the presence of a heterozygous F5 R506Q (factor V Leiden) mutation |
23957718
|
|
Scanavini et al 2004 |
Modulation of factor V levels in plasma by polymorphisms in the C2 domain |
14656739
|
|
Schrijver et al 2002A |
Novel factor V C2-domain mutation (R2074H) in two families with factor V deficiency and bleeding |
11858490
|
|
Schrijver et al 2002B |
Homozygous factor V splice site mutation associated with severe factor V deficiency |
11929802
|
|
Schrijver et al 2005 |
High frequency of premature termination mutations in the factor V gene: three factor V deficiency case reports and a mutation review |
15735818
|
|
Shinozawa et al 2007 |
Molecular characterization of 3 factor V mutations, R2174L, V1813M, and a 5-bp deletion, that cause factor V deficiency |
18192108
|
|
Simioni et al 2005 |
An underestimated combination of opposites resulting in enhanced thrombotic tendency |
15961511
|
|
Smith et al 2007 |
Association of genetic variations with nonfatal venous thrombosis in postmenopausal women |
17284699
|
|
Song et al 2009 |
A novel in-frame deletion in the factor V C1 domain associated with severe coagulation factor V deficiency in a Korean family |
19786944
|
|
Spiezia et al 2012 |
Platelet factor V levels in moderate to severe congenital factor V deficiency |
22176589
|
|
Steen et al 2003 |
Factor V New Brunswick: Ala221Val associated with FV deficiency reproduced in vitro and functionally characterized |
12714495
|
|
Su et al 2021 |
A novel |
33443922
|
|
Suzuki et al 2018 |
Combined deficiency of factors V and VIII by chance coinheritance of parahaemophilia and haemophilia A, but not by mutations of either LMAN1 or MCFD2, in a Japanese family |
29082580
|
|
Talbot et al 2010 |
A novel compensating mechanism for homozygous coagulation factor V deficiency suggested by enhanced activated partial thromboplastin time after reconstitution with normal factor V |
20735394
|
|
Traynis et al 2006 |
First molecular characterization of a patient with combined factor V and factor VII deficiency |
16732384
|
|
van der Neur Kolfschoten et al 2004 |
Characterization of an immunologic polymorphism (D79H) in the heavy chain of factor V |
15140126
|
|
van der Neut Kolfschoten et al 2003 |
The R2-haplotype associated Asp2194Gly mutation in the light chain of human factor V results in lower expression levels of FV, but has no influence on the glycosylation of Asn2181 |
12624624
|
|
van Wijk et al 2001A |
Five novel mutations in the gene for human blood coagulation factor V associated with type I factor V deficiency |
11435304
|
|
van Wijk et al 2001B |
Coexistence of a novel homozygous nonsense mutation in exon 13 of the factor V gene with the homozygous Leiden mutation in two unrelated patients with severe factor V deficiency |
11564077
|
|
Vellinga et al 2006 |
Successful pregnancy in a patient with factor V deficiency: case report and review of the literature |
16676084
|
|
Vincent et al 2013 |
Coagulation factor V(A2440G) causes east Texas bleeding disorder via TFPI? |
23979162
|
|
Wang et al 2014 |
Factor V deficiency caused by a novel nonsense mutation (Gln2031stop) in a Chinese patient |
24675695
|
|
Wang et al 2018 |
Congenital factor V deficiency and decreased VWF in a Chinese male patient with hematuria |
29105952
|
|
Williamson et al 1998 |
Factor V Cambridge: a new mutation (Arg306-->Thr) associated with resistance to activated protein C |
9454742
|
|
Xie et al 2001 |
[Studies on hereditary deficiency of coagulation factor V] |
11758222
|
|
Yamakage et al 2006 |
A case of coagulation factor V deficiency caused by compound heterozygous mutations in the factor V gene |
16476093
|
|
Yamazaki et al 2002 |
Molecular basis of quantitative factor V deficiency associated with factor V R2 haplotype |
12239164
|
|
Yamazaki et al 2010 |
The D2194G mutation is responsible for increased levels of FV1 in carriers of the factor V R2 haplotype |
20694279
|
|
Zehnder et al 1996 |
Recurrent thrombosis due to compound heterozygosity for factor V Leiden and factor V deficiency |
8735145
|
|
Zehnder et al 1999A |
Familial coagulation factor V deficiency caused by a novel 4 base pair insertion in the factor V gene: factor V Stanford |
10494770
|
|
Zehnder et al 1999B |
Erratum: Familial coagulation factor V deficiency caused by a novel 4 base pair insertion in the factor V gene: factor V Stanford |
10681265
|
|
Zheng et al 2006 |
[Identification of two novel mutations of human blood coagulation factor V gene in a Chinese family with congenital factor V deficiency] |
17029198
|
|
Zheng et al 2010 |
Molecular characterisation of Tyr530Ser and IVS16-1G>T mutations causing severe factor V deficiency |
20664902
|
|
Zhou et al 2005 |
[Severe hereditary coagulation factor V deficiency caused by two novel heterozygous mutations] |
15946520
|
|
Zimowski et al 2021 |
F5-Atlanta: A novel mutation in |
33773040
|
