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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Bibliografiset tiedot
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group 2012
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Article
Linkit: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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