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Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle

The mitochondrial translation system is responsible for the synthesis of 13 proteins required for oxidative phosphorylation (OXPHOS), the major energy-generating process of our cells. Mitochondrial translation is controlled by various nuclear encoded proteins. In 27 patients with combined OXPHOS def...

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Détails bibliographiques
Auteurs principaux: Smits, Paulien, Antonicka, Hana, van Hasselt, Peter M, Weraarpachai, Woranontee, Haller, Wolfram, Schreurs, Marieke, Venselaar, Hanka, Rodenburg, Richard J, Smeitink, Jan A, van den Heuvel, Lambert P
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2011
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3062000/
https://ncbi.nlm.nih.gov/pubmed/21119709
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.208
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