MITOMAP References for Variant A5690G at 5690

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PMID Reference
23696415 Blakely, E. L., Yarham, J. W., Alston, C. L., Craig, K., Poulton, J., Brierley, C., Park, S.-M., Dean, A., Xuereb, J. H., Anderson, K. N., Compston, A., Allen, C., Sharif, S., Enevoldson, P., Wilson, M., Hammans, S. R., Turnbull, D. M., McFarland, R., Taylor, R. W. (2013) Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease Human Mutation . 34 (9): 1260-1268 .
23847141 Bannwarth, S., Procaccio, V., Lebre, A. S., Jardel, C., Chaussenot, A., Hoarau, C., Maoulida, H., Charrier, N., Gai, X., Xie, H. M., Ferre, M., Fragaki, K., Hardy, G., Mousson de Camaret, B., Marlin, S., Dhaenens, C. M., Slama, A., Rocher, C., Paul Bonnefont, J., Rotig, A., Aoutil, N., Gilleron, M., Desquiret-Dumas, V., Reynier, P., Ceresuela, J., Jonard, L., Devos, A., Espil-Taris, C., Martinez, D., Gaignard, P., Le Quan Sang, K. H., Amati-Bonneau, P., Falk, M. J., Florentz, C., Chabrol, B., Durand-Zaleski, I., Paquis-Flucklinger, V. (2013) Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders Journal of Medical Genetics . 50 (10): 704-714 .