MITOMAP References for Variant C-T at 14568

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Index PMID Date Reference
1 9177303 1997 Wissinger, B., Besch, D., Baumann, B., Fauser, S., Christ-Adler, M., Jurklies, B., Zrenner, E., Leo-Kottler, B. (1997) Mutation analysis of the ND6 gene in patients with Lebers hereditary optic neuropathy Biochemical and Biophysical Research Communications . 234 (2): 511-515 .
2 10447650 1999 Besch, D., Leo-Kottler, B., Zrenner, E., Wissinger, B. (1999) Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene Graefes Archive for Clincial and Experimental Ophthalmology . 237 (9): 745-752 .
3 12150954 2002 Fauser, S., Luberichs, J., Besch, D., Leo-Kottler, B. (2002) Sequence analysis of the complete mitochondrial genome in patients with Leber's hereditary optic neuropathy lacking the three most common pathogenic DNA mutations Biochemical and Biophysical Research Communications . 295 (2): 342-347 .
4 22879922 2012 Achilli, A., Iommarini, L., Olivieri, A., Pala, M., Kashani, B. H., Reynier, P., La Morgia, C., Valentino, M. L., Liguori, R., Pizza, F., Barboni, P., Sadun, F., De Negri, A., Zeviani, M., Dollfus, H., Moulignier, A., Ducos, G., Orssaud, C., Bonneau, D., Procaccio, V., Leo-Kottler, B., Fauser, S., Wissinger, B., Amati-Bonneau, P., Torroni, A., Carelli, V. (2012) Rare primary mitochondrial DNA mutations and synergistic variants in Leber's hereditary optic neuropathy PLOS One . 7 (8): e42242 .
5 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/ .
6 29253894 2017 Wei, W., Gomez-Duran, A., Hudson, G., Chinnery, P. F. (2017) Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations PLoS Genetics . 13 (12): e1007126 .
7 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 .
8 12324878 2002 Fauser, S., Leo-Kottler, B., Besch, D., Luberichs, J. (2002) Confirmation of the 14568 mutation in the mitochondrial ND6 gene as causative in Leber's hereditary optic neuropathy Ophthalmic Genetics . 23 (3): 191-197 .
9 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 .
10 19319978 2009 Ferre, M., Bonneau, D., Milea, D., Chevrollier, A., Verny, C., Dollfus, H., Ayuso, C., Defoort, S., Vignal, C., Zanlonghi, X., Charlin, J. F., Kaplan, J., Odent, S., Hamel, C. P., Procaccio, V., Reynier, P., Amati-Bonneau, P. (2009) Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations Human Mutation . 30 (7): E692-705 .
11 20064630 2010 Nishigaki, Y., Ueno, H., Coku, J., Koga, Y., Fujii, T., Sahashi, K., Nakano, K., Yoneda, M., Nonaka, M., Tang, L., Liou, C. W., Paquis-Flucklinger, V., Harigaya, Y., Ibi, T., Goto, Y., Hosoya, H., DiMauro, S., Hirano, M., Tanaka, M. (2010) Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations [METHODS] Mitochondrion . 10 (3): 300-308 .
12 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 .