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Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency.
Caterina Garone, Beatriz Garcia-Diaz, Valentina Emmanuele, Luis C Lopez, Saba Tadesse, Hasan O Akman, Kurenai Tanji, Catarina M Quinzii, Michio Hirano
Sep 13, 2019
Autosomal recessive mutations in the thymidine kinase 2 gene (TK2) cause mitochondrial DNA depletion, multiple deletions, or both due to loss of TK2 enzyme activity and ensuing unbalanced deoxynucleotide triphosphate (dNTP)...