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) canno...
Topics
- Codon
- Factor V
- Genetic Predisposition to Disease
- Humans
- Partial Thromboplastin Time
- Point Mutation
- Polymerase Chain Reaction
- Protein C
- Sequence Analysis, DNA
- Thrombophlebitis