Identification and Characterization of Novel Variations in Platelet G-Protein Coupled Receptor (GPCR) Genes in Patients Historically Diagnosed with Type 1 von Willebrand Disease.

Identification and Characterization of Novel Variations in Platelet G-Protein Coupled Receptor (GPCR) Genes in Patients Historically Diagnosed with Type 1 von Willebrand Disease.

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....

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Main Authors: Jacqueline Stockley, Shaista P Nisar, Vincenzo C Leo, Essa Sabi, Margaret R Cunningham, Jeroen C Eikenboom, Stefan Lethagen, Reinhard Schneppenheim, Anne C Goodeve, Steve P Watson, Stuart J Mundell, Martina E Daly, GAPP Study in Collaboration with the MCMDM-1VWD Study Group
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2015-01-01
Series:PLoS ONE
Online Access:https://doi.org/10.1371/journal.pone.0143913
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