MITOMAP References for Mutation G-A at 13730

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Index PMID Date Reference
1 8213825 1993 Howell, N., Halvorson, S., Burns, J., McCullough, D.A., Poulton, J. (1993) When does bilateral optic atrophy become Leber hereditary optic atrophy? American Journal of Human Genetics . 53 (4): 959-963 .
2 7760326 1995 Riordan-Eva, P., Harding, A.E. (1995) Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations Journal of Medical Genetics . 32 (2): 81-87 .
3 20301353 2021 Yu-Wai-Man, P., Chinnery, P. F. (2021) Leber hereditary optic neuropathy [updated 2021 Mar 11] GeneReviews® M. P. Adam, H. H. Ardinger, R. A. Pagon, S. E. Wallace, L. J. H. Bean, G. Mirza, A. Amemiya (): https://www.ncbi.nlm.nih.gov/books/NBK1174/ .
4 8899049 1996 Mayr-Wohlfart, U., Paulus, C., Henneberg, A., Rodel, G. (1996) Mitochondrial DNA mutations in multiple sclerosis patients with severe optic involvement Acta Neurologica Scandinavica . 94 (3): 167-171 .
5 8593537 1995 Sartore, M., Grasso, M., Piccolo, G., Fasani, R., Bergamaschi, R., Malaspina, A., Ceroni, M., Kobayashi, M., Semeraro, A., Arbustini, E., Surrey, S., Fortina, P. (1995) Leber's hereditary optic neuropathy (LHON)-related mitochondrial DNA sequence changes in Italian patients presenting with sporadic bilateral optic neuritis Biochemical and Molecular Medicine . 56 (1): 45-51 .
6 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 .
7 19001017 2009 Yu-Wai-Man, P., Griffiths, P. G., Hudson, G., Chinnery, P. F. (2009) Inherited mitochondrial optic neuropathies [Review] Journal of Medical Genetics . 46 (3): 145-158 .
8 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 .