MITOMAP References for Mutation G-A at 9438

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Index PMID Date Reference
1 8037217 1994 Brown, M.D., Torroni, A., Huoponen, K., Chen, Y.S., Lott, M.T., Wallace, D.C. (1994) Pathological significance of the mtDNA COX III mutation at nucleotide pair 9438 in Leber hereditary optic neuropathy American Journal of Human Genetics . 55 (2): 410-412 .
2 8037201 1994 Howell, N. (1994) Mitochondrial gene mutations and human diseases: a prolegomenon [editorial] American Journal of Human Genetics . 55 (2): 219-224 .
3 NA 1994 Johns, D. R. (1994) Reply to Brown et al. ('Pathological significance of the mtDNA COX III mutation at nucleotide pair 9438 in Leber hereditary optic neuropathy', Am. J. Hum. Genet. 55:410, 1994) American Journal of Human Genetics . 55 (2): 410-412 .
4 8240356 1993 Johns, D. R., Neufeld, M. J. (1993) Cytochrome c oxidase mutations in Leber hereditary optic neuropathy Biochemical and Biophysical Research Communications . 196 (2): 810-815 .
5 7804416 1994 Johns, D. R., Neufeld, M. J., Hedges, T. R. (1994) Mitochondrial DNA mutations in Cuban optic and peripheral neuropathy Journal of Neuro-ophthalmology . 14 (3): 135-140 .
6 8053461 1994 Newman, N.J., Torroni, A., Brown, M.D., Lott, M.T., Fernandez, M.M., Wallace, D.C., the Cuba Neuropathy Field Investigation Team (1994) Epidemic neuropathy in Cuba not associated with mitochondrial DNA mutations found in Leber's hereditary optic neuropathy patients American Journal of Ophthalmology . 118 (2): 158-168 .
7 7710535 1995 Newman, N.J., Torroni, A., Brown, M.D., Lott, M.T., Wallace, D.C., Philen, R., Roman, G.C. (1995) Cuban optic neuropathy [letter; comment] Neurology . 45 (2): 397 .
8 7599218 1995 Savontaus, M.L. (1995) mtDNA mutations in Leber's hereditary optic neuropathy Biochimica et Biophysica Acta . 1271 (1): 261-263 .
9 7573056 1995 Oostra, R.J., Van den Bogert, C., Nijtmans, L.G., van Galen, M.J., Zwart, R., Bolhuis, P.A., Bleeker-Wagemakers, E.M. (1995) Simultaneous occurrence of the 11778 (ND4) and the 9438 (COX III) mtDNA mutations in Leber hereditary optic neuropathy: molecular, biochemical, and clinical findings American Journal of Human Genetics . 57 (4): 954-957 .
10 10520236 1999 Matsumoto, M., Hayasaka, S., Kadoi, C., Hotta, Y., Fujiki, K., Fujimaki, T., Takeda, M., Ishida, N., Endo, S., Kanai, A. (1999) Secondary mutations of mitochondrial DNA in Japanese patients with Leber's hereditary optic neuropathy Ophthalmic Genetics . 20 (3): 153-160 .
11 16132471 2005 de Magalhaes, J. P. (2005) Human disease-associated mitochondrial mutations fixed in nonhuman primates Journal of Molecular Evolution . 61 (4): 491-497 .
12 18161625 2007 Abu-Amero, K. K., Bosley, T. M. (2007) Reassessment of the pathologic significance of the 9438 mitochondrial DNA mutation associated with LHON Ophthalmic Genetics . 28 (4): 229-230 .
13 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 .
14 29976239 2018 Tseng, C. C., Chen, C. J., Yen, J. H., Huang, H. Y., Chang, J. G., Chang, S. J., Liao, W. T. (2018) Next-generation sequencing profiling of mitochondrial genomes in gout Arthritis Research and Therapy . 20 (1): 137 .