GFI1B mutation causes autosomal dominant gray platelet syndrome.
نویسنده
چکیده
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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ورودعنوان ژورنال:
- Clinical genetics
دوره 85 6 شماره
صفحات -
تاریخ انتشار 2014