Long-term outcome of hemizygous and heterozygous carriers of a germline GATA1 G208R mutation

Abstract

The transcriptional regulator GATA1 is crucially involved in megakaryocytopoiesis and erythropoiesis. Mutations of the gene which is located on the X chromosome have been associated with platelet and red blood cell abnormalities. We identified a family with a GATA1 G208R mutation in whom a low male birth rate and frequent miscarriages among heterozygous… (More)
DOI: 10.1007/s00277-010-1088-9

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