Article
Identification and Characterization of Novel Variations in Platelet G-Protein Coupled Receptor (GPCR) Genes in Patients Historically Diagnosed with Type 1 von Willebrand Disease.
PloS one - 1 Jan 2015
Stockley Jacqueline, Nisar Shaista P, Leo Vincenzo C, Sabi Essa, Cunningham Margaret R, Eikenboom Jeroen C, Lethagen Stefan, Schneppenheim Reinhard, Goodeve Anne C, Watson Steve P, Mundell Stuart J, Daly Martina E
Abstract excerpt
The clinical expression of type 1 von Willebrand disease may be modified by co-inheritance of other mild bleeding diatheses. We previously showed that mutations in the platelet P2Y12 ADP receptor gene (P2RY12) could contribute to the bleeding phenotype in patients with type 1 von Willebrand disease. Here we investigated whether variations in platelet G protein-coupled receptor genes other than P2RY12 also...
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