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Deoxyguanosine kinase mutation F180S is associated with a lean phenotype in mice
BACKGROUND: Deoxyguanosine kinase (DGUOK) deficiency is one of the genetic causes of mitochondrial DNA depletion syndrome (MDDS) in humans, leading to the hepatocerebral or the isolated hepatic form of MDDS. Mouse models are helpful tools for the improvement of understanding of the pathophysiology o...
Autores principales: | Borreguero, Cédric Francis, Wueest, Stephan, Hantel, Constanze, Schneider, Holger, Konrad, Daniel, Beuschlein, Felix, Spyroglou, Ariadni |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10023562/ https://www.ncbi.nlm.nih.gov/pubmed/36709400 http://dx.doi.org/10.1038/s41366-023-01262-z |
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