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A Dominant-Negative GFI1B Mutation in the Gray Platelet Syndrome
Publication year - 2015
Publication title -
new england journal of medicine
Language(s) - English
Resource type - Journals
eISSN - 1533-4406
pISSN - 0028-4793
DOI - 10.1056/nejmx150011
Subject(s) - medicine , chédiak–higashi syndrome , mutation , platelet , gray (unit) , genetics , pathology , nuclear medicine , gene , biology
1. Kahr WH, Hinckley J, Li L et al. Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. Nat Genet 2011: 43 (8): 738–740. 2. Albers CA, Cvejic A, Favier R et al. Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. Nat Genet 2011: 43 (8): 735–737. 3. Gunay-Aygun M, Falik-Zaccai TC, Vilboux T et al. NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet alphagranules. Nat Genet 2011: 43 (8): 732–734.

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