Population study of the G1691A mutation (R506% FV Leiden) in the human factor V gene that is associated with resistance to activated protein C |
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| Authors: | A Braun B Müller A A Rosche |
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| Institution: | (1) Dr. v. Haunersches Kinderspital, Department of Clinical Chemistry and Biochemistry, University of Munich, Germany;(2) Kinderpoliklinik, Department of Pediatric Genetics, University of Munich, Germany |
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| Abstract: | The mutation G1691A (R506Q) in the human factor V gene is associated with the resistance to activated protein C (APC) that represents a major risk of development of venous thrombosis. A population study of 180 unrelated individuals from south Germany was performed. Examination of the allelic frequencies revealed a high prevalence of this disease-related mutation (Q506, FV Leiden). The heterozygosity rate was 7.8% with a confidence interval between 4% and 11%. |
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