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...

Full description

Saved in:
Bibliographic Details
Published in: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.
Format: Artigo
Language:Inglês
Published: American Society for Clinical Investigation 2015
Subjects:
Brief Report
Online Access: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
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items