The m.3291T>C mt-tRNA(Leu(UUR)) mutation is definitely pathogenic and causes multisystem mitochondrial disease

Mitochondrial tRNA point mutations are important causes of human disease, and have been associated with a diverse range of clinical phenotypes. Definitively proving the pathogenicity of any given mt-tRNA mutation requires combined molecular, genetic and functional studies. Subsequent evaluation of t...

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Détails bibliographiques
Auteurs principaux: Yarham, John W., Blakely, Emma L., Alston, Charlotte L., Roberts, Mark E., Ealing, John, Pal, Piyali, Turnbull, Douglass M., McFarland, Robert, Taylor, Robert W.
Format: Artigo
Langue:Inglês
Publié: Elsevier 2013
Sujets:
Short Communication
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3560033/
https://ncbi.nlm.nih.gov/pubmed/23273904
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jns.2012.12.003
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