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...

詳細記述

保存先:
書誌詳細
出版年:Blood
主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: American Society of Hematology 2017
主題:
Platelets and Thrombopoiesis
オンライン･アクセス: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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