Condition: Hereditary Factor V Deficiency
rs118203907 in
F5 gene and
Hereditary Factor V Deficiency
PMID 20735394 2010 A novel compensating mechanism for homozygous coagulation factor V deficiency suggested by enhanced activated partial thromboplastin time after reconstitution with normal factor V.
PMID 21150787 2011 Recommendations from the EGAPP Working Group: routine testing for Factor V Leiden (R506Q) and prothrombin (20210G>A) mutations in adults with a history of idiopathic venous thromboembolism and their adult family members.
PMID 12816860 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.
PMID 11418372 2001 A missense mutation (Y1702C) in the coagulation factor V gene is a frequent cause of factor V deficiency in the Italian population.
PMID 10942390 2000 Combinations of 4 mutations (FV R506Q, FV H1299R, FV Y1702C, PT 20210G/A) affecting the prothrombinase complex in a thrombophilic family.
PMID 16476093 2006 A case of coagulation factor V deficiency caused by compound heterozygous mutations in the factor V gene.
PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
PMID 8164741 1994 Mutation in blood coagulation factor V associated with resistance to activated protein C.
PMID 7911872 1994 Association of idiopathic venous thromboembolism with single point-mutation at Arg506 of factor V.
PMID 7910348 1994 Activated protein C resistance caused by Arg506Gln mutation in factor Va.
PMID 22044617 2012 Genetic modulation of the FV(Leiden)/normal FV ratio and risk of venous thrombosis in factor V Leiden heterozygotes.
PMID 9694743 1998 A novel factor V null mutation detected in a thrombophilic patient with pseudo-homozygous APC resistance and in an asymptomatic unrelated subject.