Index | PMID | Date | Reference |
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1 | 15498972 | 2004 | Wilson, F. H., Hariri, A., Farhi, A., Zhao, H., Petersen, K. F., Toka, H. R., Nelson-Williams, C., Raja, K. M., Kashgarian, M., Shulman, G. I., Scheinman, S. J., Lifton, R. P. (2004) A cluster of metabolic defects caused by mutation in a mitochondrial tRNA Science . 306 (5699): 1190-1194 . |
2 | 34607911 | 2022 | Viering, D., Schlingmann, K. P., Hureaux, M., Nijenhuis, T., Mallett, A., Chan, M. M. Y., van Beek, A., van Eerde, A. M., Coulibaly, J. M., Vallet, M., Decramer, S., Pelletier, S., Klaus, G., Komhoff, M., Beetz, R., Patel, C., Shenoy, M., Steenbergen, E. J., Anderson, G., Bongers, E., Bergmann, C., Panneman, D., Rodenburg, R. J., Kleta, R., Houillier, P., Konrad, M., Vargas-Poussou, R., Knoers, N., Bockenhauer, D., de Baaij, J. H. F., Genomics England Research Consortium (2022) Gitelman-like syndrome caused by pathogenic variants in mtDNA Journal of the American Society of Nephrology . 33 (2): 305-325 . |