Index | PMID | Date | Reference |
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1 | 12227465 | 2002 | Horvath, J., Horvath, R., Karcagi, V., Komoly, S., Johns, D. R. (2002) Sequence analysis of Hungarian LHON patients not carrying the common primary mutations Journal of Inherited Metabolic Disease . 25 (4): 323-324 . |
2 | NA | 2014 | van Oven, M., Kayser, M. (2014) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 16): 19 Feb . |
3 | 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 . |
4 | 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/ . |
5 | 35773337 | 2022 | Al-Kafaji, G., Alharbi, M. A., Alkandari, H., Salem, A. H., Bakhiet, M. (2022) Analysis of the entire mitochondrial genome reveals Leber's hereditary optic neuropathy mitochondrial DNA mutations in an Arab cohort with multiple sclerosis Scientific Reports . 12 (1): 11099 . |