MITOMAP References for RNA Mutation G8313A

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Index PMID Date Reference
1 9380435 1997 Verma, A., Piccoli, D. A., Bonilla, E., Berry, G. T., DiMauro, S., Moraes, C. T. (1997) A novel mitochondrial G8313A mutation associated with prominent initial gastrointestinal symptoms and progressive encephaloneuropathy Pediatric Research . 42 (4): 448-454 .
2 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 .
3 12737626 2003 Bacman, S. R., Atencio, D. P., Moraes, C. T. (2003) Decreased mitochondrial tRNALys steady-state levels and aminoacylation are associated with the pathogenic G8313A mitochondrial DNA mutation Biochemical Journal . 374 (Pt 1): 131-136 .
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 15100439 2004 Sissler, M., Helm, M., Frugier, M., Giege, R., Florentz, C. (2004) Aminoacylation properties of pathology-related human mitochondrial tRNA(Lys) variants RNA . 10 (5): 841-853 .
6 17620140 2007 Gonzalez, A. M., Larruga, J. M., Abu-Amero, K. K., Shi, Y., Pestano, J., Cabrera, V. M. (2007) Mitochondrial lineage M1 traces an early human backflow to Africa BMC Genomics . 8 (-): 223 .
7 19618438 2009 O'Rourke, K., Buddles, M. R., Farrell, M., Howley, R., Sukuraman, S., Connolly, S., Turnbull, D. M., Hutchinson, M., Taylor, R. W. (2009) Phenotypic diversity associated with the mitochondrial m.8313G>A point mutation Muscle and Nerve . 40 (4): 648-651 .