SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects
SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects
About this item
Full title
Author / Creator
UK Genotyping and Phenotyping of Platelets study group , on behalf of the UK Genotyping and Phenotyping of Platelets study group , 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 and Morgan, Neil V
Publisher
United States: American Society for Clinical Investigation
Journal title
Language
English
Formats
Publication information
Publisher
United States: American Society for Clinical Investigation
Subjects
More information
Scope and Contents
Contents
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 Genotyping and Phenotyping of Platelets (GAPP) st...
Alternative Titles
Full title
SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects
Authors, Artists and Contributors
Author / Creator
on behalf of the UK Genotyping and Phenotyping of Platelets study group
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4588283
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4588283
Other Identifiers
ISSN
0021-9738
E-ISSN
1558-8238
DOI
10.1172/JCI80347
