Article
Fibrinogen bellingham: a gamma-chain R275C substitution and a beta-promoter polymorphism in a thrombotic member of an asymptomatic family.
American journal of hematology - 1 Aug 2000
Linenberger M L, Kindelan J, Bennett R L, Reiner A P, Côté H C
Abstract excerpt
Congenital dysfibrinogenemia is a rare cause of unexplained thrombosis. However, most individuals with dysfibrinogenemia are asymptomatic, suggesting that co-morbid factors contribute to thrombo-embolic events. The potential roles of additional genetic or acquired prothrombotic risk factors are poorly understood because detailed family studies are lacking. Herein, we describe a family whose propositus was a young...
Topics
- Adult
- Aged
- Alleles
- Amino Acid Substitution
- Female
- Fibrinogen
- Humans
- Male
- Middle Aged
- Pedigree
- Point Mutation
- Polymorphism, Genetic
- Promoter Regions, Genetic
- Thrombosis