MITOMAP References for Mutation A-G at 11084

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1 1323207 1992 Lertrit, P., Noer, A.S., Jean-Francois, M.J., Kapsa, R., Dennett, X., Thyagarajan, D., Lethlean, K., Byrne, E., Marzuki, S. (1992) A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I American Journal of Human Genetics . 51 (3): 457-68 .
2 8213827 1993 Sakuta, R., Goto, Y., Nonaka, I., Horai, S. (1993) An A-to-G transition at nucleotide pair 11084 in the ND4 gene may be an mtDNA polymorphism [letter; comment] American Journal of Human Genetics . 53 (4): 964-965 .
3 23563965 2013 Levin, L., Zhidkov, I., Gurman, Y., Hawlena, H., Mishmar, D. (2013) Functional recurrent mutations in the human mitochondrial phylogeny: dual roles in evolution and disease Genome Biology and Evolution . 5 (5): 876-890 .
4 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 .
5 21457906 2011 Pereira, L., Soares, P., Radivojac, P., Li, B., Samuels, D. C. (2011) Comparing phylogeny and the predicted pathogenicity of protein variations reveals equal purifying selection across the global human mtDNA diversity American Journal of Human Genetics . 88 (4): 433-439 .
6 18468491 2008 Takasaki, S. (2008) Mitochondrial SNPs associated with Japanese centenarians, Alzheimer's patients, and Parkinson's patients Computational Biology and Chemistry . 32 (5): 332-337 .
7 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 .