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

Daniel A. Lichtenstein, Andrew W. Crispin, Anoop K. Sendamarai, Dean R. Campagna, Klaus Schmitz-Abe, Cristovao M. Sousa, Martin D. Kafina, Paul J. Schmidt, Charlotte M. Niemeyer, John Porter, Alison May, Mrinal M. Patnaik, Matthew M. Heeney, Alec Kimmelman, Sylvia S. Bottomley, Barry H. Paw, Kyriacos Markianos, Mark D. Fleming