MITOMAP References for Mutation C-T at 13967

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Index PMID Date Reference
1 7901141 1993 Huoponen, K., Lamminen, T., Juvonen, V., Aula, P., Nikoskelainen, E., Savontaus, J.L. (1993) The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy Human Genetics . 92 (4): 379-384 .
2 2567271 1989 Vilkki, J., Savontaus, M.L., Kalimo, H., Nikoskelainen, E.K. (1989) Mitochondrial DNA polymorphism in Finnish families with Leber's hereditary optic neuroretinopathy Human Genetics . 82 (3): 208-212 .
3 8600429 1996 Nikoskelainen, E. K., Huoponen, K., Juvonen, V., Lamminen, T., Nummelin, K., Savontaus, M. L. (1996) Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations Ophthalmology . 103 (3): 504-514 .
4 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 .