Mutations in Iron-Sulfur Cluster Scaffold Genes NFU1 and BOLA3 Cause a Fatal Deficiency of Multiple Respiratory Chain and 2-Oxoacid Dehydrogenase Enzymes

Severe combined deficiency of the 2-oxoacid dehydrogenases, associated with a defect in lipoate synthesis and accompanied by defects in complexes I, II, and III of the mitochondrial respiratory chain, is a rare autosomal recessive syndrome with no obvious causative gene defect. A candidate locus for...

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Hauptverfasser: Cameron, Jessie M., Janer, Alexandre, Levandovskiy, Valeriy, MacKay, Nevena, Rouault, Tracey A., Tong, Wing-Hang, Ogilvie, Isla, Shoubridge, Eric A., Robinson, Brian H.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2011
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3188835/
https://ncbi.nlm.nih.gov/pubmed/21944046
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.08.011
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