MITOMAP References for Mutation G-A at 14600

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1 17535832 2007 Malfatti, E., Bugiani, M., Invernizzi, F., de Souza, C. F., Farina, L., Carrara, F., Lamantea, E., Antozzi, C., Confalonieri, P., Sanseverino, M. T., Giugliani, R., Uziel, G., Zeviani, M. (2007) Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy Brain . 130 (Pt 7): 1894-1904 .
2 23129651 2012 Lin, C. S., Sharpley, M. S., Fan, W., Waymire, K. G., Sadun, A., Carelli, V., Ross-Cisneros, F. N., Baciu, P., Sung, E., McManus, M. J., Pan, B. X., Gil, D. W., MacGregor, G. R., Wallace, D. C. (2012) A mouse mtDNA mutant model of Leber's hereditary optic neuropathy Proceedings of the National Academy of Sciences of the United States of America . 109 (49): 20065-20070 .
3 33536343 2021 Yardeni, T., Cristancho, A. G., McCoy, A. J., Schaefer, P. M., McManus, M. J., Marsh, E. D., Wallace, D. C. (2021) An mtDNA mutant mouse demonstrates that mitochondrial deficiency can result in autism endophenotypes Proceedings of the National Academy of Sciences of the United States of America . 118 (6): e2021429118 .
4 18977334 2009 Valente, L., Piga, D., Lamantea, E., Carrara, F., Uziel, G., Cudia, P., Zani, A., Farina, L., Morandi, L., Mora, M., Spinazzola, A., Zeviani, M., Tiranti, V. (2009) Identification of novel mutations in five patients with mitochondrial encephalomyopathy Biochimica et Biophysica Acta . 1787 (5): 491-501 .