MITOMAP References for RNA Mutation A3288G

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Index PMID Date Reference
1 10402027 1999 Hadjigeorgiou, G. M., Kim, S. H., Fischbeck, K. H., Andreu, A. L., Berry, G. T., Bingham, P., Shanske, S., Bonilla, E., DiMauro, S. (1999) A new mitochondrial DNA mutation (A3288G) in the tRNA(Leu(UUR)) gene associated with familial myopathy Journal of the Neurological Sciences . 164 (2): 153-157 .
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 15477393 2004 Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .
4 23631826 2013 Wang, M., Zhou, X. L., Liu, R. J., Fang, Z. P., Zhou, M., Eriani, G., Wang, E. D. (2013) Multilevel functional and structural defects induced by two pathogenic mitochondrial tRNA mutations Biochemical Journal . 453 (3): 455-465 .