MITOMAP References for Variant T3273del at 3273

Download PMID list

PMID Reference
7854527 Shoffner, J. M., Bialer, M. G., Pavlakis, S. G., Lott, M. T., Kaufman, A., Dixon, J., Teichberg, S., Wallace, D. C. (1995) Mitochondrial encephalomyopathy associated with a single nucleotide pair deletion in the mitochondrial tRNALeu(UUR) gene Neurology . 45 (2): 286-292 .
15477393 Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .
30701423 Ozawa, K., Mochizuki, K., Manabe, Y., Yoshikura, N., Shimohata, T., Nishino, I., Goto, Y. I. (2019) Retinal dystrophy associated with a single-base deletion mutation in mitochondrial DNA 3271 in patient with MELAS syndrome Documenta Ophthalmologica. Advances in Opthalmology . 138 (2): 147-152 .