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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Dades bibliogràfiques
Publicat a:Blood
Autors principals: 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
Idioma:Inglês
Publicat: American Society of Hematology 2016
Matèries:
Plenary Paper
Accés en línia: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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