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...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
الحاوية / القاعدة:J Clin Invest
المؤلفون الرئيسيون: 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.
التنسيق: Artigo
اللغة:Inglês
منشور في: American Society for Clinical Investigation 2015
الموضوعات:
Brief Report
الوصول للمادة أونلاين: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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