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Schmitz‐Abe, Klaus

https://orcid.org/0000-0002-7242-8861

A5060134052 | I1288882113

Mayo Clinic

Boston Children's Hospital

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.