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Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance

Mitochondrial DNA (mtDNA) depletion syndrome (MDS), an autosomal recessive condition, is characterized by variable organ involvement with decreased mtDNA copy number and activities of respiratory chain enzymes in affected tissues. MtDNA depletion has been associated with mutations in nine autosomal...

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Detalhes bibliográficos
Main Authors: Akman, Hasan O., Dorado, Beatriz, López, Luis C., García-Cazorla, Ángeles, Vilà, Maya R., Tanabe, Lauren M., Dauer, William T., Bonilla, Eduardo, Tanji, Kurenai, Hirano, Michio
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2008
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3115590/
https://ncbi.nlm.nih.gov/pubmed/18467430
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddn143
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