New molecular insights into the genetics of thrombophilia. Resistance to activated protein C caused by Arg506 to Gln mutation in factor V as a pathogenic risk factor for venous thrombosis.

Abstract excerpt

Genetic risk factors are important in the pathogenesis of venous thrombosis, as demonstrated by the familial clustering of the disease. However, well defined genetic defects were until recently found in less than 10% of the thrombosis patients. In 1993, inherited resistance to activated protein C...

Topics

• Enzyme Activation
• Factor V
• Factor V Deficiency
• Factor VIIIa
• Factor Va
• Genetic Predisposition to Disease
• Humans
• Models, Molecular
• Point Mutation
• Prevalence
• Protein C
• Protein S Deficiency
• Pulmonary Embolism
• Thrombin
• Thrombomodulin
• Thrombophlebitis