MITOMAP References for Mutation T-C at 6547

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1 2025303 1991 Ozawa, T., Tanaka, M., Ino, H., Ohno, K., Sano, T., Wada, Y., Yoneda, M., Tanno, Y., Miyatake, T., Tanaka, T., Itoyama, S., Ikebe, S., Hattori, N., Mizuno, Y. (1991) Distinct clustering of point mutations in mitochondrial DNA among patients with mitochondrial encephalomyopathies and with Parkinson's disease Biochemical and Biophysical Research Communications . 176 (2): 938-946 .
2 2124116 1990 Yoneda, M., Tanno, Y., Horai, S., Ozawa, T., Miyatake, T., Tsuji, S. (1990) A common mitochondrial DNA mutation in the tRNALys of patients with myoclonus epilepsy associated with ragged-red fibers Biochemistry International . 21 (5): 789-796 .
3 NA 2019 Pereira, C., de Souza, C. F., Vedolin, L., Vairo, F., Lorea, C., Sobreira, C., Nogueira, C., Vilarinho, L. (2019) Leigh syndrome due to mtDNA pathogenic variants Journal of Inborn Errors of Metabolism and Screening . 7 (): e20180003; doi:10.1590/2326-4594-jiems-2018-0003 .