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Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency

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) pools. To bypass Tk2 deficiency, we administered deoxycytidine and deoxythym...

詳細記述

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書誌詳細
主要な著者: Garone, Caterina, Garcia-Diaz, Beatriz, Emmanuele, Valentina, Lopez, Luis C, Tadesse, Saba, Akman, Hasan O, Tanji, Kurenai, Quinzii, Catarina M, Hirano, Michio
フォーマット: Artigo
言語:Inglês
出版事項: BlackWell Publishing Ltd 2014
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4154130/
https://ncbi.nlm.nih.gov/pubmed/24968719
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15252/emmm.201404092
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