MITOMAP References for Mutation A-C at 7445

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1 29253894 2017 Wei, W., Gomez-Duran, A., Hudson, G., Chinnery, P. F. (2017) Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations PLoS Genetics . 13 (12): e1007126 .
2 10577941 1999 Pandya, A., Xia, X. J., Erdenetungalag, R., Amendola, M., Landa, B., Radnaabazar, J., Dangaasuren, B., Van Tuyle, G., Nance, W. E. (1999) Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia American Journal of Human Genetics . 65 (6): 1803-1806 .
3 16361254 2006 Yan, H., Zareen, N., Levinger, L. (2006) Naturally occurring mutations in human mitochondrial pre-tRNASer(UCN) can affect the transfer ribonuclease Z cleavage site, processing kinetics, and substrate secondary structure Journal of Biological Chemistry . 281 (7): 3926-3935 .
4 18402672 2008 Alvarez-Iglesias, V., Barros, F., Carracedo, A., Salas, A. (2008) Minisequencing mitochondrial DNA pathogenic mutations [METHODS] BMC Medical Genetics . 9 (-): 26 .
5 10739773 2000 Lopez-Bigas, N., Rabionet, R., Martinez, E., Bravo, O., Girons, J., Borragan, A., Pellicer, M., Arbones, M. L., Estivill, X. (2000) Mutations in the mitochondrial tRNA Ser(UCN) and in the GJB2 (connexin 26) gene are not modifiers of the age at onset or severity of hearing loss in Spanish patients with the 12S rRNA A1555G mutation American Journal of Human Genetics . 66 (4): 1465-1467 .
6 20064630 2010 Nishigaki, Y., Ueno, H., Coku, J., Koga, Y., Fujii, T., Sahashi, K., Nakano, K., Yoneda, M., Nonaka, M., Tang, L., Liou, C. W., Paquis-Flucklinger, V., Harigaya, Y., Ibi, T., Goto, Y., Hosoya, H., DiMauro, S., Hirano, M., Tanaka, M. (2010) Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations [METHODS] Mitochondrion . 10 (3): 300-308 .
7 19705751 2009 Dzhemileva, L. U., Posukh, O. L., Tazetdinov, A. M., Barashkov, N. A., Zhuravskii, S. G., Ponidelko, S. N., Markova, T. G., Tadinova, V. N., Fedorova, S. A., Maksimova, N. R., Khusnutdinova, E. K. (2009) [Analysis of mitochondrial 12S rRNA and tRNA(Ser(UCN)) genes in patients with nonsyndromic sensorineural hearing loss from various regions of Russia] Genetika . 45 (7): 982-991 .
8 25968158 2015 Tang, X., Zheng, J., Ying, Z., Cai, Z., Gao, Y., He, Z., Yu, H., Yao, J., Yang, Y., Wang, H., Chen, Y., Guan, M. X. (2015) Mitochondrial tRNA(Ser(UCN)) variants in 2651 Han Chinese subjects with hearing loss Mitochondrion . 23 (): 17-24 .