Comparative analysis of the pathogenic mechanisms associated with the G8363A and A8296G mutations in the mitochondrial tRNA(Lys) gene

Two mutations (G8363A and A8296G) in the mtDNA (mitochondrial DNA) tRNA(Lys) gene have been associated with severe mitochondrial diseases in a number of reports. Their functional significance, however, remains unknown. We have already shown that homoplasmic cybrids harbouring the A8296G mutation dis...

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Bibliografiske detaljer
Main Authors: Bornstein, Belén, Mas, José Antonio, Patrono, Clarice, Fernández-Moreno, Miguel Angel, González-Vioque, Emiliano, Campos, Yolanda, Carrozzo, Rosalba, Martín, Miguel Angel, Hoyo, Pilar del, Santorelli, Filippo M., Arenas, Joaquín, Garesse, Rafael
Format: Artigo
Sprog:Inglês
Udgivet: Portland Press Ltd. 2005
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1135008/
https://ncbi.nlm.nih.gov/pubmed/15554876
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BJ20040949
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