Article

Deoxyguanosine kinase mutation F180S is associated with a lean phenotype in mice

2022-10-11

Abstract excerpt

<title>Abstract</title> <p>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 of diseases and offer the opportunity to examine new therapeutic options. Methods Herein,...

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Literature Corpus work: 3c3f5093-64ca-5fa7-8b38-63477fc48a96
DOI: 10.21203/rs.3.rs-2122704/v1

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