Identification of a severe bleeding disorder in humans caused by a mutation in CalDAG-GEFI | Zendy

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Identification of a severe bleeding disorder in humans caused by a mutation in CalDAG-GEFI

Author(s) -

William A. Müller

Publication year - 2014

Publication title -

the journal of experimental medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 8.483

H-Index - 448

eISSN - 1540-9538

pISSN - 0022-1007

DOI - 10.1084/jem.2117insight1

Subject(s) - platelet , blood platelet disorders , platelet disorder , rap1 , guanine nucleotide exchange factor , medicine , p2y12 , mutation , platelet activation , hemostasis , missense mutation , gene , platelet adhesiveness , genetics , signal transduction , biology , platelet aggregation

![Figure][1] Insight from William MullerIn this issue, [Canault et al.][2] report for the first time a point mutation in the RAS guanyl-releasing protein 2 ( RASGRP2 ) gene that results in a severe bleeding defect in humans.The study of inherited platelet disorders has shed light on the

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