MITOMAP References for Variant A5537insT at 5537

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PMID Reference
9266739 Santorelli, F. M., Tanji, K., Sano, M., Shanske, S., El-Shahawi, M., Kranz-Eble, P., DiMauro, S., De Vivo, D. C. (1997) Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene Annals of Neurology . 42 (2): 256-260 .
10862082 Rubio-Gozalbo, M. E., Dijkman, K. P., van den Heuvel, L. P., Sengers, R. C., Wendel, U., Smeitink, J. A. (2000) Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations Human Mutation . 15 (6): 522-532 .
12776230 Tulinius, M., Moslemi, A. R., Darin, N., Westerberg, B., Wiklund, L. M., Holme, E., Oldfors, A. (2003) Leigh syndrome with cytochrome-c oxidase deficiency and a single T insertion nt 5537 in the mitochondrial tRNATrp gene Neuropediatrics . 34 (2): 87-91 .
31965079 Wong, L. C., Chen, T., Wang, J., Tang, S., Schmitt, E. S., Landsverk, M., Li, F., Wang, Y., Zhang, S., Zhang, V. W., Craigen, W. J. (2020) Interpretation of mitochondrial tRNA variants Genetics in Medicine 22 (5): 917-926; Suppl Table 1 .
14681757 Darin, N., Moslemi, A. R., Lebon, S., Rustin, P., Holme, E., Oldfors, A., Tulinius, M. (2003) Genotypes and clinical phenotypes in children with cytochrome-c oxidase deficiency Neuropediatrics. . 34 (6): 311-317 .
20064630 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 .