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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Detalhes bibliográficos
Publicado no:Blood
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2016
Assuntos:
Plenary Paper
Acesso em linha: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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