MITOMAP References for RNA Mutation T5814C

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Index PMID Date Reference
1 8829635 1996 Manfredi, G., Schon, E.A., Bonilla, E., Moraes, C.T., Shanske, S., DiMauro, S. (1996) Identification of a mutation in the mitochondrial tRNA(Cys) gene associated with mitochondrial encephalopathy Human Mutation . 7 (2): 158-163 .
2 9185178 1997 Santorelli, F. M., Siciliano, G., Casali, C., Basirico, M.G., Carrozzo, R., Calvosa, F., Sartucci, F., Bonfiglio, L., Murri, L., DiMauro, S. (1997) Mitochondrial tRNA(Cys) gene mutation (A5814G): a second family with mitochondrial encephalopathy Neuromuscular Disorders . 7 (3): 156-159 .
3 9384601 1998 Sternberg, D., Danan, C., Lombes, A., Laforet, P., Girodon, E., Goossens, M., Amselem, S. (1998) Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders Human Molecular Genetics . 7 (1): 33-42 .
4 11335700 2001 Sternberg, D., Chatzoglou, E., Laforet, P., Fayet, G., Jardel, C., Blondy, P., Fardeau, M., Amselem, S., Eymard, B., Lombes, A. (2001) Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders Brain . 124 (Pt 5): 984-994 .
5 16132471 2005 de Magalhaes, J. P. (2005) Human disease-associated mitochondrial mutations fixed in nonhuman primates Journal of Molecular Evolution . 61 (4): 491-497 .
6 16172508 2006 Kivisild, T., Shen, P., Wall, D. P., Do, B., Sung, R., Davis, K., Passarino, G., Underhill, P. A., Scharfe, C., Torroni, A., Scozzari, R., Modiano, D., Coppa, A., de Knijff, P., Feldman, M., Cavalli-Sforza, L. L., Oefner, P. J. (2006) The role of selection in the evolution of human mitochondrial genomes Genetics . 172 (1): 373-387 .
7 16947981 2006 Ruiz-Pesini, E., Wallace, D. C. (2006) Evidence for adaptive selection acting on the tRNA and rRNA genes of the human mitochondrial DNA Human Mutation . 27 (11): 1072-1081 .
8 18977334 2009 Valente, L., Piga, D., Lamantea, E., Carrara, F., Uziel, G., Cudia, P., Zani, A., Farina, L., Morandi, L., Mora, M., Spinazzola, A., Zeviani, M., Tiranti, V. (2009) Identification of novel mutations in five patients with mitochondrial encephalomyopathy Biochimica et Biophysica Acta . 1787 (5): 491-501 .
9 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 .