MITOMAP References for RNA Mutation C1624T

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Index PMID Date Reference
1 11799391 2002 McFarland, R., Clark, K. M., Morris, A. A., Taylor, R. W., Macphail, S., Lightowlers, R. N., Turnbull, D. M. (2002) Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation Nature Genetics . 30 (2): 145-146 .
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 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 .
4 31965079 2020 Wong, L. C., Chen, T., Wang, J., Tang, S., Schmitt, E. S., Landsverk, M., Li, F., Wang, Y., Zhang, S., Zhang, V. W., Craigen, W. J. (2020) Interpretation of mitochondrial tRNA variants Genetics in Medicine 22 (5): 917-926; Suppl Table 1 .
5 18400783 2008 Rorbach, J., Yusoff, A. A., Tuppen, H., Abg-Kamaludin, D. P., Chrzanowska-Lightowlers, Z. M., Taylor, R. W., Turnbull, D. M., McFarland, R., Lightowlers, R. N. (2008) Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation Nucleic Acids Research . 36 (9): 3065-3074 .
6 32970680 2020 Toncheva, D., Serbezov, D., Karachanak-Yankova, S., Nesheva, D. (2020) Ancient mitochondrial DNA pathogenic variants putatively associated with mitochondrial disease PLoS One 15 (9): e0233666 .