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Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9

The congenital sideroblastic anemias (CSAs) are relatively uncommon diseases characterized by defects in mitochondrial heme synthesis, iron-sulfur (Fe-S) cluster biogenesis, or protein synthesis. Here we demonstrate that mutations in HSPA9, a mitochondrial HSP70 homolog located in the chromosome 5q...

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Bibliografiske detaljer
Udgivet i:Blood
Main Authors: Schmitz-Abe, Klaus, Ciesielski, Szymon J., Schmidt, Paul J., Campagna, Dean R., Rahimov, Fedik, Schilke, Brenda A., Cuijpers, Marloes, Rieneck, Klaus, Lausen, Birgitte, Linenberger, Michael L., Sendamarai, Anoop K., Guo, Chaoshe, Hofmann, Inga, Newburger, Peter E., Matthews, Dana, Shimamura, Akiko, Snijders, Pieter J. L. M., Towne, Meghan C., Niemeyer, Charlotte M., Watson, Henry G., Dziegiel, Morten H., Heeney, Matthew M., May, Alison, Bottomley, Sylvia S., Swinkels, Dorine W., Markianos, Kyriacos, Craig, Elizabeth A., Fleming, Mark D.
Format: Artigo
Sprog:Inglês
Udgivet: American Society of Hematology 2015
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4683334/
https://ncbi.nlm.nih.gov/pubmed/26491070
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2015-09-659854
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