Article
Marked bleeding diathesis in patients with platelet dysfunction due to a novel mutation in RASGRP2, encoding CalDAG-GEFI (p.Gly305Asp).
Platelets - 1 Jan 2018
Bermejo Emilse, Alberto Maria F, Paul David S, Cook Aaron A, Nurden Paquita, Sanchez Luceros Analia, Nurden Alan T, Bergmeier Wolfgang
Abstract excerpt
Congenital platelet function disorders are often the result of defects in critical signal transduction pathways required for platelet adhesion and clot formation. Mutations affecting RASGRP2, the gene encoding the Rap GTPase activator, CalDAG-GEFI, give rise to a novel, and rare, group of platelet signal transduction abnormalities. We here report platelet function studies for two brothers (P1 and P2) expressing a...
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