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Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency

Mutations in several mitochondrial DNA and nuclear genes involved in mitochondrial protein synthesis have recently been reported in combined respiratory chain deficiency, indicating a generalized defect in mitochondrial translation. However, the number of patients with pathogenic mutations is small,...

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Bibliographische Detailangaben
Hauptverfasser: Kemp, John P., Smith, Paul M., Pyle, Angela, Neeve, Vivienne C. M., Tuppen, Helen A. L., Schara, Ulrike, Talim, Beril, Topaloglu, Haluk, Holinski-Feder, Elke, Abicht, Angela, Czermin, Birgit, Lochmüller, Hanns, McFarland, Robert, Chinnery, Patrick F., Chrzanowska-Lightowlers, Zofia M.A., Lightowlers, Robert N., Taylor, Robert W., Horvath, Rita
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2011
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Original Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3707321/
https://ncbi.nlm.nih.gov/pubmed/21169334
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awq320
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