MITOMAP References for RNA Mutation G5532A

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Index PMID Date Reference
1 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 .
2 15054399 2004 Maniura-Weber, K., Taylor, R. W., Johnson, M. A., Chrzanowska-Lightowlers, Z., Morris, A. A., Charlton, C. P., Turnbull, D. M., Bindoff, L. A. (2004) A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome European Journal of Human Genetics . 12 (6): 509-512 .
3 19718780 2009 Elson, J. L., Swalwell, H., Blakely, E. L., McFarland, R., Taylor, R. W., Turnbull, D. M. (2009) Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why? Human Mutation . 30 (11): E984-992 .