MITOMAP References for RNA Mutation T9997C

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Index PMID Date Reference
1 8079988 1994 Merante, F., Tein, I., Benson, L., Robinson, B. H. (1994) Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene American Journal of Human Genetics . 55 (3): 437-446 .
2 10090480 1999 Raha, S., Merante, F., Shoubridge, E., Myint, A.T., Tein, I., Benson, L., Johns, T., Robinson, B.H. (1999) Repopulation of rho0 cells with mitochondria from a patient with a mitochondrial DNA point mutation in tRNA(Gly) results in respiratory chain dysfunction Human Mutation . 13 (3): 245-254 .
3 29253894 2017 Wei, W., Gomez-Duran, A., Hudson, G., Chinnery, P. F. (2017) Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations PLoS Genetics . 13 (12): e1007126 .
4 15477393 2004 Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .
5 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 .