MITOMAP References for RNA Mutation T4285C

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Index PMID Date Reference
1 8607814 1996 Silvestri, G., Servidei, S., Rana, M., Ricci, E., Spinazzola, A., Paris, E., Tonali, P. (1996) A novel mitochondrial DNA point mutation in the tRNA(Ile) gene is associated with progressive external ophtalmoplegia Biochemical and Biophysical Research Communications . 220 (3): 623-627 .
2 10611124 2000 Mirabella, M., Di Giovani, S., Silvestri, G., Tonali, P., Servidei, S. (2000) Apoptosis in mitochondrial encephalomyopathies with mitochondrial DNA mutations: A potential pathogenic mechanism. Brain . 123 (Pt 1): 93-104 .
3 12655007 2003 Levinger, L., Giege, R., Florentz, C. (2003) Pathology-related substitutions in human mitochondrial tRNA(Ile) reduce precursor 3' end processing efficiency in vitro Nucleic Acids Research . 31 (7): 1904-1912 .
4 15477393 2004 Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .
5 22781547 2012 Yarham, J. W., McFarland, R., Taylor, R. W., Elson, J. L. (2012) A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations Mitochondrion . 12 (5): 533-538 .