Article
Genetic predisposition to bleeding during oral anticoagulant therapy: evidence for common founder mutations (FIXVal-10 and FIXThr-10) and an independent CpG hotspot mutation (FIXThr-10).
Thrombosis and haemostasis - 1 Mar 2001
Oldenburg J, Kriz K, Wuillemin W A, Maly F E, von Felten A, Siegemund A, Keeling D M, Baker P, Chu K, Konkle B A, Lämmle B, Albert T
Abstract excerpt
The recent discovery of five patients with coumarin sensitive FIX-variants due to a missense mutation in the FIX propeptide, either Ala-10Val or Ala-10Thr, has highlighted a novel type of genetic predisposition to bleeding during oral anticoagulant therapy (OAT). In the present study, we report six additional patients with such FIX variants. Haplotype analysis of FIX polymorphisms revealed a founder effect in the...
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