Mutations in the mitochondrial tRNA(Ser(AGY)) gene are associated with deafness, retinal degeneration, myopathy and epilepsy

Although over 200 pathogenic mitochondrial DNA (mtDNA) mutations have been reported to date, determining the genetic aetiology of many cases of mitochondrial disease is still not straightforward. Here, we describe the investigations undertaken to uncover the underlying molecular defect(s) in two unr...

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Hauptverfasser: Tuppen, Helen AL, Naess, Karin, Kennaway, Nancy G, Al-Dosary, Mazhor, Lesko, Nicole, Yarham, John W, Bruhn, Helene, Wibom, Rolf, Nennesmo, Inger, Weleber, Richard G, Blakely, Emma L, Taylor, Robert W, McFarland, Robert
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2012
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3400738/
https://ncbi.nlm.nih.gov/pubmed/22378285
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.44
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