MITOMAP References for Variant A3280G at 3280

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Index PMID Date Reference
1 11335700 2001 Sternberg, D., Chatzoglou, E., Laforet, P., Fayet, G., Jardel, C., Blondy, P., Fardeau, M., Amselem, S., Eymard, B., Lombes, A. (2001) Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders Brain . 124 (Pt 5): 984-994 .
2 12402350 2002 Crimi, M., Sciacco, M., Galbiati, S., Bordoni, A., Malferrari, G., Del Bo, R., Biunno, I., Bresolin, N., Comi, G.P. (2002) A collection of 33 novel human mtDNA homoplasmic variants Human Mutation . 20 (5): 409 .
3 12798797 2003 Campos, Y., Garcia, A., del Hoyo, P., Jara, P., Martin, M. A., Rubio, J. C., Berbel, A., Barbera, J. R., Ribacoba, R., Astudillo, A., Cabello, A., Ricoy, J. R., Arenas, J. (2003) Two pathogenic mutations in the mitochondrial DNA tRNA Leu(UUR) gene (T3258C and A3280G) resulting in variable clinical phenotypes Neuromuscular Disorders . 13 (5): 416-420 .
4 15477393 2004 Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .
5 15870203 2005 Kirino, Y., Goto, Y. I., Campos, Y., Arenas, J., Suzuki, T. (2005) Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease Proceedings of the National Academy of Sciences of the United States of America . 102 (20): 7127-7132 .
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 .