GFI1B mutation causes autosomal dominant gray platelet syndrome

Clinical Genetics

Volumn 85, Issue 6, 2014, Pages 534-535

  Aminkeng, F ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CD34 ANTIGEN; GLYCOPROTEIN IB ALPHA; GROWTH FACTOR; GROWTH FACTOR INDEPENDENT 1B; THROMBOCYTE FACTOR 4; UNCLASSIFIED DRUG; ONCOPROTEIN; REPRESSOR PROTEIN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE MARROW; CELLULAR DISTRIBUTION; GRAY PLATELET SYNDROME; HUMAN; LINKAGE ANALYSIS; MEGAKARYOCYTE; MEGAKARYOPOIESIS; MYELOFIBROSIS; NONSENSE MUTATION; PRIORITY JOURNAL; THROMBOCYTE; THROMBOCYTOPENIA; FEMALE; GENETICS; MALE; MUTATION; PATHOLOGY;

BLOOD PLATELETS; FEMALE; GRAY PLATELET SYNDROME; HUMANS; MALE; MEGAKARYOCYTES; MUTATION; PROTO-ONCOGENE PROTEINS; REPRESSOR PROTEINS;

EID: 84899489514     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12380     Document Type: Article

References (3)

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 alpha-granules. Nat Genet 2011: 43 (8): 732-734.