MITOMAP References for RNA Mutation C1226G

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Index PMID Date Reference
1 24092330 2014 Smith, P. M., Elson, J. L., Greaves, L. C., Wortmann, S. B., Rodenburg, R. J., Lightowlers, R. N., Chrzanowska-Lightowlers, Z. M., Taylor, R. W., Vila-Sanjurjo, A. (2014) The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential Human Molecular Genetics . 23 (4): 949-967 .
2 15286157 2004 Li, R., Greinwald, J. H., Jr., Yang, L., Choo, D. I., Wenstrup, R. J., Guan, M. X. (2004) Molecular analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with non-syndromic hearing loss Journal of Medical Genetics . 41 (8): 615-620 .