Article
Factor V Leiden (R506Q) and risk of venous thromboembolism: a case-control study based on the Spanish population.
Clinical genetics - 1 Oct 1997
García-Gala J M, Alvarez V, Pinto C R, Soto I, Urgellés M F, Menéndez M J, Carracedo C, López-Larrea C, Coto E
Abstract excerpt
Resistance to activated protein C (APC) is a frequent cause of thrombophilia. Most patients showing APC-resistance have a G to A mutation at codon 506 of the factor V that converts arginine to glutamine. This mutation is present in populations worldwide with frequencies ranging from 0.01 to 0.05....
Topics
- Adult
- Aged
- Case-Control Studies
- DNA Mutational Analysis
- Disease Susceptibility
- Disease-Free Survival
- Enzyme Activation
- Factor V
- Female
- Gene Frequency
- Genotype
- Humans
- Male
- Middle Aged
- Pedigree
- Polymerase Chain Reaction
- Prevalence
- Protein C