Article
Identification of the same factor V gene mutation in 47 out of 50 thrombosis-prone families with inherited resistance to activated protein C.
The Journal of clinical investigation - 1 Dec 1994
Zöller B, Svensson P J, He X, Dahlbäck B
Abstract excerpt
Resistance to activated protein C (APC) is the most prevalent inherited cause of venous thrombosis. The APC resistance phenotype is associated with a single point mutation in the factor V gene, changing Arg506 in the APC cleavage site to a Gln. We have investigated 50 Swedish families with inheri...
Topics
- Arginine
- Base Sequence
- Drug Resistance
- Enzyme Activation
- Factor V
- Female
- Genetic Predisposition to Disease
- Glutamine
- Heterozygote
- Homozygote
- Humans
- Male
- Molecular Sequence Data
- Point Mutation
- Protein C
- Risk Factors
- Survival Analysis
- Sweden