MITOMAP References for RNA Mutation C3275A

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Index PMID Date Reference
1 10612844 2000 Garcia-Lozano, J. R., Aguilera, I., Bautista, J., Nunez-Roldan, A. (2000) A new mitochondrial DNA mutation in the tRNA leucine 1 gene (C3275A) in a patient with Leber's hereditary optic neuropathy Human Mutation . 15 (1): 120-121 .
2 15477393 2004 Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .
3 29161289 2017 Queen, R. A., Steyn, J. S., Lord, P., Elson, J. L. (2017) Mitochondrial DNA sequence context in the penetrance of mitochondrial t-RNA mutations: A study across multiple lineages with diagnostic implications PLoS One 12 (11): e0187862 .