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Mitochondrial deoxyguanosine kinase mutations and mitochondrial DNA depletion syndrome

โœ Scribed by Liya Wang; Staffan Eriksson


Book ID
117105954
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
116 KB
Volume
554
Category
Article
ISSN
0014-5793

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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

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