Article
Biochemical prototype for familial thrombosis. A study combining a functional protein C mutation and factor V Leiden.
Arteriosclerosis, thrombosis, and vascular biology - 1 Dec 1995
Kalafatis M, Lu D, Bertina R M, Long G L, Mann K G
Abstract excerpt
Resistance to activated protein C (APC) is associated with a single amino acid substitution in factor V (Arg506-->Gln, factor V Leiden) that results in delayed inactivation of the molecule by APC. The mutation is present in 20% of patients with a first episode of deep venous thrombosis. Arterial...
Topics
- Factor V
- Factor Va
- Heterozygote
- Homozygote
- Humans
- Mutation
- Protein C
- Thrombosis