Article
Molecular detection of a common mutation in coagulation factor V causing thrombosis via hereditary resistance to activated protein C.
Diagnostic molecular pathology : the American journal of surgical pathology, part B - 1 Sept 1995
Liu X Y, Nelson D, Grant C, Morthland V, Goodnight S H, Press R D
Abstract excerpt
More than half of all patients with familial or recurring venous thrombosis have hereditary resistance to activated protein C (HRAPC) as the result of specific missense mutation in the gene for coagulation factor V. Because the mutant factor Va (with an Arg to Gln substitution at codon 506) cannot be cleaved and inactivated by activated protein C, carriers of this mutation are at significantly increased risk of...
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