Article
Identification and characterization of a novel P2Y 12 variant in a patient diagnosed with type 1 von Willebrand disease in the European MCMDM-1VWD study.
Blood - 23 Apr 2009
Daly Martina E, Dawood Ban B, Lester William A, Peake Ian R, Rodeghiero Francesco, Goodeve Anne C, Makris Michael, Wilde Jonathan T, Mumford Andrew D, Watson Stephen P, Mundell Stuart J
Abstract excerpt
We investigated whether defects in the P2Y(12) ADP receptor gene (P2RY12) contribute to the bleeding tendency in 92 index cases enrolled in the European MCMDM-1VWD study. A heterozygous mutation, predicting a lysine to glutamate (K174E) substitution in P2Y(12), was identified in one case with mild type 1 von Willebrand disease (VWD) and a VWF defect. Platelets from the index case and relatives carrying the K174E...
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