MITOMAP References for RNA Mutation T12297C

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Index PMID Date Reference
1 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 .
2 31965079 2020 Wong, L. C., Chen, T., Wang, J., Tang, S., Schmitt, E. S., Landsverk, M., Li, F., Wang, Y., Zhang, S., Zhang, V. W., Craigen, W. J. (2020) Interpretation of mitochondrial tRNA variants Genetics in Medicine 22 (5): 917-926; Suppl Table 1 .
3 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 .
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 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 .
6 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 .