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A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia

Soumeya Bekri, Alison May, Philip D. Cotter, Ala I. Al-Sabah, Xiaojun Guo, Gillian S. Masters, David F. Bishop
Journal: Blood
Blood (2003) 102 (2): 698–704.
https://doi.org/10.1182/blood-2002-06-1623
Published: 2003