Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding

Heritable platelet function disorders (PFDs) are genetically heterogeneous and poorly characterized. Pathogenic variants in RASGRP2, which encodes calcium and diacylglycerol-regulated guanine exchange factor I (CalDAG-GEFI), have been reported previously in 3 pedigrees with bleeding and reduced plat...

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Detalhes bibliográficos
Publicado no:Blood
Main Authors: Westbury, Sarah K., Canault, Matthias, Greene, Daniel, Bermejo, Emilse, Hanlon, Katharine, Lambert, Michele P., Millar, Carolyn M., Nurden, Paquita, Obaji, Samya G., Revel-Vilk, Shoshana, Van Geet, Chris, Downes, Kate, Papadia, Sofia, Tuna, Salih, Watt, Christopher, Freson, Kathleen, Laffan, Michael A., Ouwehand, Willem H., Alessi, Marie-Christine, Turro, Ernest, Mumford, Andrew D.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2017
Assuntos:
Platelets and Thrombopoiesis
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5785798/
https://ncbi.nlm.nih.gov/pubmed/28637664
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2017-03-776773
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