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Conjugated Hyperbilirubinemia in Infancy (Mitochondrial DNA Depletion Syndrome, Liver)

✍ Scribed by James Dimmick

Publisher
Springer
Year
2004
Tongue
English
Weight
269 KB
Volume
7
Category
Article
ISSN
1093-5266

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## Abstract Mitochondrial depletion syndrome (MDS) refers to a heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues. Mutations in __DGUOK__ encoding deoxyguanosine kinase (MIM 601465) cause the hepatocerebral form of MDS (MIM 25188

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