Article
Effects of the R216Q mutation of GATA-1 on erythropoiesis and megakaryocytopoiesis.
Thrombosis and haemostasis - 1 Jan 2004
Balduini Carlo L, Pecci Alessandro, Loffredo Giuseppe, Izzo Paola, Noris Patrizia, Grosso Michela, Bergamaschi Gaetano, Rosti Vittorio, Magrini Umberto, Ceresa Iride F, Conti Valeria, Poggi Vincenzo, Savoia Anna
Abstract excerpt
The transcription factor GATA-1, together with its cofactor FOG-1, regulates erythropoiesis and megakaryocytopoiesis. Mutations in the DNA or FOG-1 binding sites of its N-terminal zinc finger result in different illnesses. Alterations of the FOG-1 face are responsible for dyserythropoietic anemia with thrombocytopenia while R216Q, the only mutation identified in the DNA face, induces X-linked thrombocytopenia...
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