MITOMAP References for RNA Mutation A12320G

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Index PMID Date Reference
1 9012410 1997 Weber, K., Wilson, J.N., Taylor, L., Brierley, E., Johnson, M.A., Turnbull, D.M., Bindoff, L.A. (1997) A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle American Journal of Human Genetics . 60 (2): 373-380 .
2 9207784 1997 Clark, K. M., Bindoff, L. A., Lightowlers, R. N., Andrews, R. M., Griffiths, P. G., Johnson, M. A., Brierley, E. J., Turnbull, D. M. (1997) Reversal of a mitochondrial DNA defect in human skeletal muscle Nature Genetics . 16 (3): 222-224 .
3 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 .
4 25652200 2015 Gorman, G. S., Schaefer, A. M., Ng, Y., Gomez, N., Blakely, E. L., Alston, C. L., Feeney, C., Horvath, R., Yu-Wai-Man, P., Chinnery, P. F., Taylor, R. W., Turnbull, D. M., McFarland, R. (2015) Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease Annals of Neurology . 77 (5): 753-759 .
5 10611123 2000 Chinnery, P. F., Elliott, C., Green, G. R., Rees, A., Coulthard, A., Turnbull, D. M., Griffiths, T. D. (2000) The spectrum of hearing loss due to mitochondrial DNA defects Brain . 123 (Pt 1): 82-92 .
6 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 .
7 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 .