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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Vydáno v:Blood
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society of Hematology 2016
Témata:
Plenary Paper
On-line přístup: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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