Citations 1
A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia
Lichtenstein, Daniel A. , Crispin, Andrew, Sendamarai, Anoop K. , Campagna, Dean R. , Schmitz‐Abe, Klaus , Sousa, Cristovão M. , Kafina, Martin D. , Schmidt, Paul J. , May, Alison, Patnaik, Mrinal M. , Kimmelman, Alec C. , Bottomley, Sylvia S. , Markianos, Kyriacos , Fleming, Mark D. , Niemeyer, Charlotte Marie , Porter, John B. , Heeney, Matthew M. , Paw, Barry H. , Lichtenstein, Dan
Blood | August 4, 2016 | Volume: 128 | Issue: 15 | Pages: 1913-1917
Key Points A recurring mutation in NDUFB11 causes congenital sideroblastic anemia. The NDUFB11 p.93del mutation impairs erythroid proliferation, but not differentiation.