Marked bleeding diathesis in patients with platelet dysfunction due to a novel mutation in RASGRP2, encoding CalDAG-GEFI (p.Gly305Asp)

Marked bleeding diathesis in patients with platelet dysfunction due to a novel mutation in RASGRP2, encoding CalDAG-GEFI (p.Gly305Asp)

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 s...

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Bibliographic Details
Main Authors: Emilse Bermejo, Maria F. Alberto, David S. Paul, Aaron A. Cook, Paquita Nurden, Analia Sanchez Luceros, Alan T. Nurden, Wolfgang Bergmeier
Format: Article
Language:English
Published: Taylor & Francis Group 2018-01-01
Series:Platelets
Subjects:
bleeding
dysfunction
platelets
rasgrp2
signaling
Online Access:http://dx.doi.org/10.1080/09537104.2017.1332759

Internet

http://dx.doi.org/10.1080/09537104.2017.1332759

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