Article
Variability in bleeding phenotype in Amish carriers of haemophilia B with the 31008 C-->T mutation.
Haemophilia : the official journal of the World Federation of Hemophilia - 1 Jan 2009
Sharathkumar A, Hardesty B, Greist A, Salter J, Kerlin B, Heiman M, Sulkin M, Shapiro A
Abstract excerpt
The aim of this study was to characterize the variability of bleeding phenotype and its association with plasma factor IX coagulant activity (FIX:C) in haemophilia B carriers in a large Amish pedigree with a unifying genetic mutation, C-to-T transition at base 31008 of the factor IX gene (Xq27.1-27.2). A cross-sectional survey of haemophilia B carriers included a multiple choice questionnaire evaluating symptoms...
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