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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Publicado en:Blood
Autores principales: 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
Lenguaje:Inglês
Publicado: American Society of Hematology 2017
Materias:
Platelets and Thrombopoiesis
Acceso en línea: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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