Article
The transcription factor GATA1 regulates NBEAL2 expression through a long-distance enhancer.
Haematologica - 1 Apr 2017
Wijgaerts Anouck, Wittevrongel Christine, Thys Chantal, Devos Timothy, Peerlinck Kathelijne, Tijssen Marloes R, Van Geet Chris, Freson Kathleen
Abstract excerpt
Gray platelet syndrome is named after the gray appearance of platelets due to the absence of α-granules. It is caused by recessive mutations in NBEAL2, resulting in macrothrombocytopenia and myelofibrosis. Though using the term gray platelets for GATA1 deficiency has been debated, a reduced number of α-granules has been described for macrothrombocytopenia due to GATA1 mutations. We compared platelet size and...
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