SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects

Inherited thrombocytopenias are a group of disorders that are characterized by a low platelet count and are sometimes associated with excessive bleeding that ranges from mild to severe. We evaluated 36 unrelated patients and 17 family members displaying thrombocytopenia that were recruited to the UK...

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Détails bibliographiques
Publié dans:J Clin Invest
Auteurs principaux: Fletcher, Sarah J., Johnson, Ben, Lowe, Gillian C., Bem, Danai, Drake, Sian, Lordkipanidzé, Marie, Guiú, Isabel Sánchez, Dawood, Ban, Rivera, José, Simpson, Michael A., Daly, Martina E., Motwani, Jayashree, Collins, Peter W., Watson, Steve P., Morgan, Neil V.
Format: Artigo
Langue:Inglês
Publié: American Society for Clinical Investigation 2015
Sujets:
Brief Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4588283/
https://ncbi.nlm.nih.gov/pubmed/26280575
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI80347
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