OBO ID: DOID:0070329

Citations

(3 total)

Term: mitochondrial DNA depletion syndrome

Tseng, Y.T., Li, S.W., HuangFu, W.C., Yen, Y., Liu, I.H. (2020) The single nucleotide variant at c.662A>G in human RRM2B is a loss-of-function mutation. Molecular genetics & genomic medicine. 8(11):e1497

Martorano, L., Peron, M., Laquatra, C., Lidron, E., Facchinello, N., Meneghetti, G., Tiso, N., Rasola, A., Ghezzi, D., Argenton, F. (2019) The zebrafish orthologue of the human hepatocerebral disease gene MPV17 plays pleiotropic roles in mitochondria. Disease models & mechanisms. 12(3):

Munro, B., Horvath, R., Müller, J.S. (2018) Nucleoside supplementation modulates mitochondrial DNA copy number in the dguok-/- zebrafish. Human molecular genetics. 28(5):796-803