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The transcription factor GATA1 regulates NBEAL2 expression through a long-distance enhancer
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 o...
Autores principales: | Wijgaerts, Anouck, Wittevrongel, Christine, Thys, Chantal, Devos, Timothy, Peerlinck, Kathelijne, Tijssen, Marloes R., Van Geet, Chris, Freson, Kathleen |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Ferrata Storti Foundation
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5395110/ https://www.ncbi.nlm.nih.gov/pubmed/28082341 http://dx.doi.org/10.3324/haematol.2016.152777 |
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