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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Bibliografiske detaljer
Udgivet i: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.
Format: Artigo
Sprog:Inglês
Udgivet: American Society of Hematology 2016
Fag:
Plenary Paper
Online adgang: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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