Article
Co-segregation of thrombosis with the factor V Q506 mutation in an extended family with resistance to activated protein C.
British journal of haematology - 1 Mar 1995
Beufé S, Borg J Y, Vasse M, Charbonnier F, Moreau V, Monconduit M, Frebourg T
Abstract excerpt
The activated protein C (APC) resistance phenotype results from a mutation at one of the cleavage sites of factor V by APC (Q506). We describe a large family with an APC resistance phenotype and without any other detectable coagulation defect, including eight subjects who had developed deep venous thrombosis (mean age of the first thrombosis episode 29 years; range 17-55 years). The factor V Q506 mutation was...
Topics
- Adult
- Child
- Child, Preschool
- Factor V
- Female
- Humans
- Male
- Middle Aged
- Pedigree
- Phenotype
- Point Mutation
- Protein C