MITOMAP References for Mutation A-G at 4833

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Index PMID Date Reference
1 11095989 2000 Ohkubo, E., Aida, K., Chen, J., Hayashi, J. I., Isobe, K., Tawata, M., Onaya, T. (2000) A patient with type 2 diabetes mellitus associated with mutations in calcium sensing receptor gene and mitochondrial DNA Biochemical and Biophysical Research Communications . 278 (3): 808-813 .
2 18468491 2008 Takasaki, S. (2008) Mitochondrial SNPs associated with Japanese centenarians, Alzheimer's patients, and Parkinson's patients Computational Biology and Chemistry . 32 (5): 332-337 .
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 11853713 2002 Yen, M. Y., Wang, A. G., Chang, W. L., Hsu, W. M., Liu, J. H., Wei, Y. H. (2002) Leber's hereditary optic neuropathy--the spectrum of mitochondrial DNA mutations in Chinese patients Japanese Journal of Ophthalmology . 46 (1): 45-51 .