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Syndromes associated with mitochondrial DNA depletion

✍ Scribed by Nogueira, Célia; Almeida, Ligia S; Nesti, Claudia; Pezzini, Ilaria; Videira, Arnaldo; Vilarinho, Laura; Santorelli, Filippo M


Book ID
125404013
Publisher
BioMed Central
Year
2014
Tongue
English
Weight
402 KB
Volume
40
Category
Article
ISSN
1824-7288

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Novel mutation in DGUOK in hepatocerebra
✍ Venu T. Tadiboyina; Anthony Rupar; Paul Atkison; Annette Feigenbaum; Jonathan Kr 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 123 KB 👁 2 views

## 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