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

The congenital sideroblastic anemias (CSAs) are a heterogeneous group of inherited blood disorders characterized by pathological mitochondrial iron deposition in erythroid precursors. Each known cause has been attributed to a mutation in a protein associated with heme biosynthesis, iron-sulfur clust...

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Библиографические подробности
Опубликовано в: :Blood
Главные авторы: Lichtenstein, Daniel A., Crispin, Andrew W., Sendamarai, Anoop K., Campagna, Dean R., Schmitz-Abe, Klaus, Sousa, Cristovao M., Kafina, Martin D., Schmidt, Paul J., Niemeyer, Charlotte M., Porter, John, May, Alison, Patnaik, Mrinal M., Heeney, Matthew M., Kimmelman, Alec, Bottomley, Sylvia S., Paw, Barry H., Markianos, Kyriacos, Fleming, Mark D.
Формат: Artigo
Язык:Inglês
Опубликовано: American Society of Hematology 2016
Предметы:
Plenary Paper
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5064715/
https://ncbi.nlm.nih.gov/pubmed/27488349
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2016-05-719062
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