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Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
Background The most common cause of activated protein C (aPC) resistance is a missense substitution (Arg506Gln), known as Factor V Leiden (FVL).
|
30903752 |
2019 |
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
The R506Q Factor V-Leiden mutation is now usually characterized using molecular biology, and this technique tends to become the first intention assay for characterization of patients.
|
29162399 |
2017 |
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
Two variants in the factor 5 gene (F5), rs6025 encoding for the factor V Leiden mutation R506Q, and rs4524 encoding K858R, have been found to be associated with venous thromboembolism.
|
27479824 |
2016 |
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Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
To assess Factor V Leiden (FVL) (rs6025), Prothrombin G20210A (rs1799963), MTHFR C677T (rs1801133), and MTHFR A1298C (rs1801131) gene mutations as risk factors in the development of retinopathy of prematurity (ROP).
|
27018927 |
2016 |
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
The discovery of the factor V Leiden (FVL) missense mutation (Arg506Gln) causing factor V resistance to the anticoagulant action of activated protein C was a landmark that allowed a better understanding of the basis of inherited thrombotic risk.
|
27797270 |
2016 |
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
Risk estimates were unaffected by adjustments for blood type and F5 rs6025 (Factor V Leiden) mutation.
|
23150947 |
2013 |
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
SNP in the following genes demonstrated association with thrombosis risk overall in the discovery or replication cohorts and were assessed using metaanalytic methods: factor V Leiden (FVL) rs6025 (OR 1.85, p = 0.02) and methylenetetrahydrofolate reductase (MTHFR) rs1801133 (OR 0.75, p = 0.04) in whites, and fibrinogen gamma (FGG) rs2066865 (OR 1.91, p = 0.01) in Hispanic Americans.
|
22707612 |
2012 |
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
Resistance to activated protein C is a risk factor for pregnancy-related venous thrombosis in the absence of the F5 rs6025 (factor V Leiden) polymorphism.
|
21564075 |
2011 |
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
The Factor V Leiden mutation (FVL; c.1601G>A, p.Arg534Gln), the most common aberration underlying activated Protein C resistance, results in disruption of a major anticoagulation pathway and is a leading cause of inherited thrombophilia.
|
21254846 |
2011 |
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
If we had sequenced the F5 gene in patients homozygous for this haplotype, in order to locate the possible causal polymorphism, we would have found that 16 (76%) patients were homozygous or heterozygous for a missense mutation in exon 10 (1691G --> A), which predicts the replacement of Arg506 by Gln in one of the cleavage sites for activated protein C, a mutation that we now know as the FVL mutation.
|
15054398 |
2004 |
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
Factor V Leiden (FVL) R506Q and Prothrombin G20210A are clinically important genetic mutations associated with increased susceptibility to venous thrombosis.
|
12745655 |
2003 |
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
The genetic predispositions to venous thrombosis such as factor V Leiden (FVL) mutation (Arg 506 Gln), prothrombin (FII) gene mutation (G20210A), and mutation of the methylenetetrahydrofolate reductase (MTHFR) gene (C677T) have been reported to be associated with recurrent pregnancy loss.
|
12042290 |
2002 |
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
In most cases APC resistance is due to a single point mutation in the factor V gene leading to a replacement of Arg506 with Gln (factor V Leiden).
|
9763354 |
1998 |
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
The molecular basis of APC resistance is a single-point mutation (arginine506-glutamine) in the gene that encodes for coagulation factor V. This mutation results in a factor V molecule (factor V(Leiden)) that is less effectively downregulated by APC than is normal factor V. The gold standard for the detection of this defect is DNA analysis.
|
9128263 |
1997 |
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
This resulted in a severe bleeding disorder in two patients who carried a normal factor V gene, whereas the two patients who did not display severe hemophilia were heterozygous for the factor V(LEIDEN) mutation, which leads to the substitution of Arg506 --> Gln mutation in the factor V molecule.
|
9376587 |
1997 |
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
The risk of recurrent venous thromboembolism in patients with an Arg506-->Gln mutation in the gene for factor V (factor V Leiden).
|
9010145 |
1997 |