Article
X-linked thrombocytopenia caused by a novel mutation of GATA-1.
Blood - 1 Nov 2001
Mehaffey M G, Newton A L, Gandhi M J, Crossley M, Drachman J G
Abstract excerpt
A family with recessive X-linked thrombocytopenia affecting 4 males in 2 generations, characterized by macrothrombocytopenia, profound bleeding, and mild dyserythropoiesis, is described. Microsatellite linkage analysis identified a region of the X chromosome including the GATA-1 gene, which encodes a critical transcription factor involved in erythrocyte and megakaryocyte development. By sequencing the entire...
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