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Clinical and molecular features of mitochondrial DNA depletion syndromes

โœ Scribed by A. Spinazzola; F. Invernizzi; F. Carrara; E. Lamantea; A. Donati; M. DiRocco; I. Giordano; M. Meznaric-Petrusa; E. Baruffini; I. Ferrero; M. Zeviani

Publisher
Springer
Year
2008
Tongue
English
Weight
685 KB
Volume
32
Category
Article
ISSN
0141-8955

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Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase
โœ D. P. Dimmock; Q. Zhang; C. Dionisi-Vici; R. Carrozzo; J. Shieh; L-Y Tang; C. Tr ๐Ÿ“‚ Article ๐Ÿ“… 2008 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 469 KB ๐Ÿ‘ 1 views

Published mutations in deoxyguanosine kinase (DGUOK) cause mitochondrial DNA depletion and a clinical phenotype that consists of neonatal liver failure, nystagmus and hypotonia. In this series, we have identified 15 different mutations in the DGUOK gene from 9 kindreds. Among them, 12 have not previ