MITOMAP References for RNA Mutation A4267G

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Index PMID Date Reference
1 12207935 2002 Taylor, R. W., Schaefer, A. M., McFarland, R., Maddison, P., Turnbull, D. M. (2002) A novel mitochondrial DNA tRNA(Ile) (A4267G) mutation in a sporadic patient with mitochondrial myopathy Neuromuscular Disorders . 12 (40732): 659-664 .
2 15477393 2004 Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .
3 17965958 2007 Smits, B. W., Hol, F. A., van den Heuvel, L. P., Drost, G., Rodenburg, R. J., Ter Laak, H. J., van Engelen, B. G. (2007) Chronic progressive external ophthalmoplegia caused by an m.4267A > G mutation in the mitochondrial tRNAIle Journal of Neurology . 254 (11): 1614-1615 .
4 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 .