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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...

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Detalles Bibliográficos
Autores principales: Wijgaerts, Anouck, Wittevrongel, Christine, Thys, Chantal, Devos, Timothy, Peerlinck, Kathelijne, Tijssen, Marloes R., Van Geet, Chris, Freson, Kathleen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ferrata Storti Foundation 2017
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