MITOMAP References for Mutation G-A at 13051

Download PMID list

Index PMID Date Reference
1 12736867 2003 Howell, N., Oostra, R. J., Bolhuis, P. A., Spruijt, L., Clarke, L. A., Mackey, D. A., Preston, G., Herrnstadt, C. (2003) Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy American Journal of Human Genetics . 72 (6): 1460-1469 .
2 27164671 2016 Dombi, E., Diot, A., Morten, K., Carver, J., Lodge, T., Fratter, C., Ng, Y. S., Liao, C., Muir, R., Blakely, E. L., Hargreaves, I., Al-Dosary, M., Sarkar, G., Hickman, S. J., Downes, S. M., Jayawant, S., Yu-Wai-Man, P., Taylor, R. W., Poulton, J. (2016) The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy Neurology . 86 (20): 1921-1923 .
3 NA 2020 Bolze, A., Mendez, F., White, S., Tanudjaja, F., Isaksson, M., Jiang, R., Dei Rossi, A., Cirulli, E. T., Rashkin, M., Metcalf, W. J., Grzymski, J. J., Lee, W., Lu, J. T. and Washington, N. L. (2020) A catalog of homoplasmic and heteroplasmic mitochondrial DNA variants in humans bioRxiv . ePub (https://www.biorxiv.org/content/10.1101/798264v3): 798264 .