MITOMAP References for RNA Mutation C3287A

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Index PMID Date Reference
1 15670724 2005 Anitori, R., Manning, K., Quan, F., Weleber, R. G., Buist, N. R., Shoubridge, E. A., Kennaway, N. G. (2005) Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes Molecular Genetics and Metabolism . 84 (2): 176-188 .
2 19718780 2009 Elson, J. L., Swalwell, H., Blakely, E. L., McFarland, R., Taylor, R. W., Turnbull, D. M. (2009) Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why? Human Mutation . 30 (11): E984-992 .