MITOMAP References for RNA Mutation T14723C

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Index PMID Date Reference
1 20810132 2010 Alston, C. L., Lowe, J., Turnbull, D. M., Maddison, P., Taylor, R. W. (2010) A novel mitochondrial tRNAGlu (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle Journal of the Neurological Sciences . 298 (40545): 140-144 .
2 22258525 2012 van der Walt, E. M., Smuts, I., Taylor, R. W., Elson, J. L., Turnbull, D. M., Louw, R., van der Westhuizen, F. H. (2012) Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease European Journal of Human Genetics . 20 (6): 650-656 .