Article
Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding.
Blood - 24 Aug 2017
Westbury Sarah K, Canault Matthias, Greene Daniel, Bermejo Emilse, Hanlon Katharine, Lambert Michele P, Millar Carolyn M, Nurden Paquita, Obaji Samya G, Revel-Vilk Shoshana, Van Geet Chris, Downes Kate, Papadia Sofia, Tuna Salih, Watt Christopher, Freson Kathleen, Laffan Michael A, Ouwehand Willem H, Alessi Marie-Christine, Turro Ernest, Mumford Andrew D
Abstract excerpt
Heritable platelet function disorders (PFDs) are genetically heterogeneous and poorly characterized. Pathogenic variants in RASGRP2, which encodes calcium and diacylglycerol-regulated guanine exchange factor I (CalDAG-GEFI), have been reported previously in 3 pedigrees with bleeding and reduced platelet aggregation responses. To better define the phenotype associated with pathogenic RASGRP2 variants, we compared...
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