Index | PMID | Date | Reference |
---|---|---|---|
1 | 9299504 | 1997 | Campos, Y., Martin, M.A., Rubio, J.C., Gutierrez del Olmo, M.C., Cabello, A., Arenas, J. (1997) Bilateral striatal necrosis and MELAS associated with a new T3308C mutation in the mitochondrial ND1 gene Biochemical and Biophysical Research Communications . 238 (2): 323-325 . |
2 | 10070626 | 1999 | Vilarinho, L., Chorao, R., Cardoso, M. L., Rocha, H., Nogueira, C., Santorelli, F. M. (1999) The ND1 T3308C mutation may be a mtDNA polymorphism. Report of two Portuguese patients Journal of Inherited Metabolic Disease . 22 (1): 90-91 . |
3 | 10519336 | 1999 | Opdal, S. H., Rognum, T. O., Torgersen, H., Vege, A. (1999) Mitochondrial DNA point mutations detected in four cases of sudden infant death syndrome Acta Paediatrica . 88 (9): 957-960 . |
4 | 10521313 | 1999 | Rocha, H., Flores, C., Campos, Y., Arenas, J., Vilarinho, L., Santorelli, F.M., Torroni, A. (1999) About the 'pathological' role of the mtDNA T3308C mutation... American Journal of Human Genetics . 65 (5): 1457-1459 . |
5 | 10924280 | 2000 | Fernandez-Moreno, M. A., Bornstein, B., Campos, Y., Arenas, J., Garesse, R. (2000) The pathogenic role of point mutations affecting the translational initiation codon of mitochondrial genes Molecular Genetics and Metabolism . 70 (3): 238-240 . |
6 | 12160969 | 2002 | Opdal, S. H., Vege, A., Egeland, T., Musse, M. A., Rognum, T. O. (2002) Possible role of mtDNA mutations in sudden infant death Pediatric Neurology . 27 (1): 23-29 . |
7 | 14960712 | 2004 | Li, X., Fischel-Ghodsian, N., Schwartz, F., Yan, Q., Friedman, R. A., Guan, M. X. (2004) Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness Nucleic Acids Research . 32 (3): 867-77 . |
8 | 15972314 | 2006 | Mitchell, A. L., Elson, J. L., Howell, N., Taylor, R. W., Turnbull, D. M. (2006) Sequence variation in mitochondrial complex I genes: mutation or polymorphism? Journal of Medical Genetics . 43 (2): 175-179 . |
9 | 18194667 | 2008 | Liu, Y., Li, Z., Yang, L., Wang, S., Guan, M. X. (2008) The mitochondrial ND1 T3308C mutation in a Chinese family with the secondary hypertension Biochemical and Biophysical Research Communications . 368 (1): 18-22 . |
10 | 21457906 | 2011 | Pereira, L., Soares, P., Radivojac, P., Li, B., Samuels, D. C. (2011) Comparing phylogeny and the predicted pathogenicity of protein variations reveals equal purifying selection across the global human mtDNA diversity American Journal of Human Genetics . 88 (4): 433-439 . |
11 | 21625124 | 2011 | Zarrouk Mahjoub, S., Mehri, S., Ourda, F., Boussaada, R., Mechmeche, R., Arab, S. B., Finsterer, J. (2011) Transition m.3308T>C in the ND1 gene is associated with left ventricular hypertrabeculation/noncompaction Cardiology . 118 (3): 153-158 . |
12 | 21968326 | 2011 | Ding, Y., Zhu, H. (2011) The mitochondrial ND1 3308T>C mutation may not be associated with left ventricular hypertrabeculation/noncompaction Cardiology . 119 (3): 183; author reply 184-185 . |
13 | 22777272 | 2012 | Salas, A., Elson, J. L. (2012) Raising doubts about the pathogenicity of mitochondrial DNA mutation m.3308T>C in left ventricular hypertraveculation/noncompaction Cardiology . 122 (2): 113-115 . |
14 | 22777278 | 2012 | Zarrouk Mahjoub, S., Mehri, S., Ourda, F., Boussaada, R., Mechmeche, R., Ben Arab, S., Finsterer, J. (2012) Pathogenicity of the transition m.3308T>C in left ventricular hypertrabeculation/noncompaction Cardiology . 122 (2): 116-118 . |