Distinct Clinical Phenotypes Associated with a Mutation in the Mitochondrial Translation Elongation Factor EFTs

The 13 polypeptides encoded in mitochondrial DNA (mtDNA) are synthesized in the mitochondrial matrix on a dedicated protein-translation apparatus that resembles that found in prokaryotes. Here, we have investigated the genetic basis for a mitochondrial protein-synthesis defect associated with a comb...

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Huvudupphovsmän: Smeitink, Jan A. M., Elpeleg, Orly, Antonicka, Hana, Diepstra, Heleen, Saada, Ann, Smits, Paulien, Sasarman, Florin, Vriend, Gert, Jacob-Hirsch, Jasmine, Shaag, Avraham, Rechavi, Gideon, Welling, Brigitte, Horst, Jürgen, Rodenburg, Richard J., van den Heuvel, Bert, Shoubridge, Eric A.
Materialtyp: Artigo
Språk:Inglês
Publicerad: The American Society of Human Genetics 2006
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC1698578/
https://ncbi.nlm.nih.gov/pubmed/17033963
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