MITOMAP References for RNA Mutation T5692C

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Index PMID Date Reference
1 8129854 1993 Munscher, C., Muller-Hocker, J., Kadenbach, B. (1993) Human aging is associated with various point mutations in tRNA genes of mitochondrial DNA Biological Chemistry Hoppe Seyler . 374 (12): 1099-1104 .
2 7980504 1994 Seibel, P., Lauber, J., Klopstock, T., Marsac, C., Kadenbach, B., Reichmann, H. (1994) Chronic progressive external ophthalmoplegia is associated with a novel mutation in the mitochondrial tRNAAsn gene Biochemical and Biophysical Research Communications . 204 (2): 482-489 .
3 9384601 1998 Sternberg, D., Danan, C., Lombes, A., Laforet, P., Girodon, E., Goossens, M., Amselem, S. (1998) Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders Human Molecular Genetics . 7 (1): 33-42 .
4 11335700 2001 Sternberg, D., Chatzoglou, E., Laforet, P., Fayet, G., Jardel, C., Blondy, P., Fardeau, M., Amselem, S., Eymard, B., Lombes, A. (2001) Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders Brain . 124 (Pt 5): 984-994 .