Article
Inherited resistance to activated protein C caused by presence of the FV:Q506 allele as a basis of venous thrombosis.
Haemostasis - 1 Oct 1996
Dahlbäck B, Zöller B, Hillarp A
Abstract excerpt
Inherited resistance to activated protein C (APC) was recently discovered as a cause of familial thrombophilia and is now known to be the most common genetic risk factor for venous thrombosis. In a majority of cases, APC resistance is associated with a single point mutation in the factor V gene, which results in substitution of arginine (R) at position 506 by glutamine (Q) (FV:Q506). The mutation renders factor...
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