Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding

The nature of an inherited platelet disorder was investigated in three siblings affected by severe bleeding. Using whole-exome sequencing, we identified the culprit mutation (cG742T) in the RAS guanyl-releasing protein-2 (RASGRP2) gene coding for calcium- and DAG-regulated guanine exchange factor-1...

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Autores principales: Canault, Matthias, Ghalloussi, Dorsaf, Grosdidier, Charlotte, Guinier, Marie, Perret, Claire, Chelghoum, Nadjim, Germain, Marine, Raslova, Hana, Peiretti, Franck, Morange, Pierre E., Saut, Noemie, Pillois, Xavier, Nurden, Alan T., Cambien, François, Pierres, Anne, van den Berg, Timo K., Kuijpers, Taco W., Alessi, Marie-Christine, Tregouet, David-Alexandre
Formato: Artigo
Lenguaje:Inglês
Publicado: The Rockefeller University Press 2014
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4076591/
https://ncbi.nlm.nih.gov/pubmed/24958846
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1084/jem.20130477
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