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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Rockefeller University Press
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4076591/ https://www.ncbi.nlm.nih.gov/pubmed/24958846 http://dx.doi.org/10.1084/jem.20130477 |
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