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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Detalhes bibliográficos
Publicado no:J Clin Invest
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2015
Assuntos:
Brief Report
Acesso em linha: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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