MITOMAP References for RNA Mutation T4274C

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Index PMID Date Reference
1 9339712 1997 Chinnery, P. F., Johnson, M. A., Taylor, R. W., Durward, W. F., Turnbull, D. M. (1997) A novel mitochondrial tRNA isoleucine gene mutation causing chronic progressive external ophthalmoplegia Neurology . 49 (4): 1166-1168 .
2 17886296 2007 Schaefer, A. M., McFarland, R., Blakely, E. L., He, L., Whittaker, R. G., Taylor, R. W., Chinnery, P. F., Turnbull, D. M. (2007) Prevalence of mitochondrial DNA disease in adults Annals of Neurology . 63 (1): 35-39 .
3 12655007 2003 Levinger, L., Giege, R., Florentz, C. (2003) Pathology-related substitutions in human mitochondrial tRNA(Ile) reduce precursor 3' end processing efficiency in vitro Nucleic Acids Research . 31 (7): 1904-1912 .
4 16358336 2006 Borthwick, G. M., Taylor, R. W., Walls, T. J., Tonska, K., Taylor, G. A., Shaw, P. J., Ince, P. G., Turnbull, D. M. (2006) Motor neuron disease in a patient with a mitochondrial tRNA(Ile) mutation Annals of Neurology . 59 (3): 570-574 .
5 15477393 2004 Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .