MITOMAP References for RNA Mutation T12297C

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Index PMID Date Reference
1 10602359 1999 Tessa, A., Vilarinho, L., Casali, C., Santorelli, F. M. (1999) MtDNA-related idiopathic dilated cardiomyopathy European Journal of Human Genetics . 7 (8): 847-848 .
2 11313776 2001 Grasso, M., Diegoli, M., Brega, A., Campana, C., Tavazzi, L., Arbustini, E. (2001) The mitochondrial DNA mutation T12297C affects a highly conserved nucleotide of tRNA(Leu(CUN)) and is associated with dilated cardiomyopathy European Journal of Human Genetics . 9 (4): 311-315 .
3 19062322 2009 Wang, J., Brautbar, A., Chan, A. K., Dzwiniel, T., Li, F. Y., Waters, P. J., Graham, B. H., Wong, L. J. (2009) Two mtDNA mutations 14487T>C (M63V, ND6) and 12297T>C (tRNA Leu) in a Leigh syndrome family Molecular Genetics and Metabolism . 96 (2): 59-65 .
4 20064630 2010 Nishigaki, Y., Ueno, H., Coku, J., Koga, Y., Fujii, T., Sahashi, K., Nakano, K., Yoneda, M., Nonaka, M., Tang, L., Liou, C. W., Paquis-Flucklinger, V., Harigaya, Y., Ibi, T., Goto, Y., Hosoya, H., DiMauro, S., Hirano, M., Tanaka, M. (2010) Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations [METHODS] Mitochondrion . 10 (3): 300-308 .
5 21882289 2011 Yarham, J. W., Al-Dosary, M., Blakely, E. L., Alston, C. L., Taylor, R. W., Elson, J. L., McFarland, R. (2011) A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations Human Mutation . 32 (11): 1319-1325 .