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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...
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| 主要な著者: | , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BlackWell Publishing Ltd
2014
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| 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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