Published in
American Society of Hematology, Blood, 15(128), p. 1913-1917, 2016
DOI: 10.1182/blood-2016-05-719062
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A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia
Journal article published in 2016 by
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
and other authors.
,
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
and other authors.
This paper is made freely available by the publisher.
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Abstract
Key Points A recurring mutation in NDUFB11 causes congenital sideroblastic anemia. The NDUFB11 p.93del mutation impairs erythroid proliferation, but not differentiation.