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A novel missense mutation inSUCLG1associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria

โœ Scribed by Elsebet Ostergaard; Marianne Schwartz; Mustafa Batbayli; Ernst Christensen; Ola Hjalmarson; Gittan Kollberg; Elisabeth Holme


Book ID
106121842
Publisher
Springer
Year
2009
Tongue
English
Weight
158 KB
Volume
169
Category
Article
ISSN
0340-6997

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Novel mutation in DGUOK in hepatocerebra
โœ Venu T. Tadiboyina; Anthony Rupar; Paul Atkison; Annette Feigenbaum; Jonathan Kr ๐Ÿ“‚ Article ๐Ÿ“… 2005 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 123 KB ๐Ÿ‘ 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