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...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Ferrata Storti Foundation
2017-04-01
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| Series: | Haematologica |
| Online Access: | https://haematologica.org/article/view/8035 |