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May, Alison

A5014377696 | I79510175

Mayo Clinic

Cardiff University

Citations 1

A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia

Blood | August 4, 2016 | Volume: 128 | Issue: 15 | Pages: 1913-1917

10.1182/blood-2016-05-719062 | PMID 27488349

Key Points A recurring mutation in NDUFB11 causes congenital sideroblastic anemia. The NDUFB11 p.93del mutation impairs erythroid proliferation, but not differentiation.