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. Genotyping of 150 control individuals from the Spanish population showed that 3.33% of them carried the mutation....
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