MITOMAP References for RNA Mutation A15924G

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Index PMID Date Reference
1 1379415 1992 Brown, M. D., Torroni, A., Shoffner, J. M., Wallace, D. C. (1992) Mitochondrial tRNAThr mutations and lethal infantile mitochondrial myopathy American Journal of Human Genetics . 51 (2): 446-447 .
2 2043137 1991 Ozawa, T., Tanaka, M., Sugiyama, S., Ino, H., Ohno, K., Hattori, K., Ohbayashi, T., Ito, T., Deguchi, H., Kawamura, K., Nakane, Y., Hashiba, K. (1991) Patients with idiopathic cardiomyopathy belong to the same mitochondrial DNA gene family of Parkinson's disease and mitochondrial encephalomyopathy Biochemical and Biophysical Research Communications . 177 (1): 518-525 .
3 1645537 1991 Yoon, K. L., Aprille, J. R., Ernst, S. G. (1991) Mitochondrial tRNAThr mutation in fatal infantile respiratory enzyme deficiency Biochemical and Biophysical Research Communications . 176 (3): 1112-1115 .
4 10680807 1999 Simon, D.K., Mayeux, R., Marder, K., Kowall, N.W., Beal, M.F., Johns, D.R. (1999) Mitochondrial DNA mutations in complex I and tRNA genes in Parkinson's disease Neurology . 54 (3): 703-709 .
5 16773565 2006 Saxena, R., de Bakker, P. I., Singer, K., Mootha, V., Burtt, N., Hirschhorn, J. N., Gaudet, D., Isomaa, B., Daly, M. J., Groop, L., Ardlie, K. G., Altshuler, D. (2006) Comprehensive association testing of common mitochondrial DNA variation in metabolic disease American Journal of Human Genetics . 79 (1): 54-61 .
6 27498855 2016 Kang, L., Zheng, H. X., Zhang, M., Yan, S., Li, L., Liu, L., Liu, K., Hu, K., Chen, F., Ma, L., Qin, Z., Wang, Y., Wang, X., Jin, L. (2016) MtDNA analysis reveals enriched pathogenic mutations in Tibetan highlanders Scientific Reports . 6 (): 31083 .
7 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 .