Article
An unknown genetic defect increases venous thrombosis risk, through interaction with protein C deficiency.
American journal of human genetics - 1 Aug 1998
Hasstedt S J, Bovill E G, Callas P W, Long G L
Abstract excerpt
We used two-locus segregation analysis to test whether an unknown genetic defect interacts with protein C deficiency to increase susceptibility to venous thromboembolic disease in a single large pedigree. Sixty-seven pedigree members carry a His107Pro mutation in the protein C gene, which reduces...
Topics
- Adolescent
- Adult
- Age Factors
- Aged
- Aged, 80 and over
- Amino Acid Substitution
- Child
- Female
- Genetic Carrier Screening
- Genetic Predisposition to Disease
- Humans
- Male
- Middle Aged
- Pedigree
- Point Mutation
- Protein C
- Protein C Deficiency
- Risk Factors