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Novel DNA mutation in theGATA3gene in an Emirati boy with HDR syndrome and hypomagnesemia

✍ Scribed by Amar Al-Shibli; Ibrahim Al Attrach; Patrick J. Willems


Book ID
106161972
Publisher
Springer
Year
2011
Tongue
English
Weight
136 KB
Volume
26
Category
Article
ISSN
0931-041X

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Novel mutation in DGUOK in hepatocerebra
✍ Venu T. Tadiboyina; Anthony Rupar; Paul Atkison; Annette Feigenbaum; Jonathan Kr πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 123 KB πŸ‘ 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