MITOMAP References for Mutation A-G at 13528

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Index PMID Date Reference
1 11102991 2000 Batandier, C., Picard, A., Tessier, N., Lunardi, J. (2000) Identification of a novel T398A mutation in the ND5 subunit of the mitochondrial complex I and of three novel mtDNA polymorphisms in two patients presenting ocular symptoms Human Mutation . 16 (6): 532 .
2 15972314 2006 Mitchell, A. L., Elson, J. L., Howell, N., Taylor, R. W., Turnbull, D. M. (2006) Sequence variation in mitochondrial complex I genes: mutation or polymorphism? Journal of Medical Genetics . 43 (2): 175-179 .
3 22589247 2012 Petruzzella, V., Carrozzo, R., Calabrese, C., Dell'Aglio, R., Trentadue, R., Piredda, R., Artuso, L., Rizza, T., Bianchi, M., Porcelli, A. M., Guerriero, S., Gasparre, G., Attimonelli, M. (2012) Deep sequencing unearths nuclear mitochondrial sequences under Leber's hereditary optic neuropathy-associated false heteroplasmic mitochondrial DNA variants Human Molecular Genetics . 21 (17): 3753-3764 .
4 17940288 2007 McKenzie, M., Liolitsa, D., Akinshina, N., Campanella, M., Sisodiya, S., Hargreaves, I., Nirmalananthan, N., Sweeney, M. G., Abou-Sleiman, P. M., Wood, N. W., Hanna, M. G., Duchen, M. R. (2007) Mitochondrial ND5 gene variation associated with encephalomyopathy and mitochondrial ATP consumption The Journal of Biological Chemistry . 282 (51): 36845-36852 .
5 29987491 2018 O'Keefe, H., Queen, R. A., Meldau, S., Lord, P., Elson, J. L. (2018) Haplogroup context is less important in the penetrance of mitochondrial DNA complex I mutations compared to mt-tRNA mutations Journal of Molecular Evolution . 86 (6): 395-403 .
6 32652755 2020 Wong, L. C., Chen, T., Schmitt, E. S., Wang, J., Tang, S., Landsverk, M., Li, F., Zhang, S., Wang, Y., Zhang, V. W., Craigen, W. J. (2020) Clinical and laboratory interpretation of mitochondrial mRNA variants Human Mutatation . 41 (10): .