title: Novel deoxyguanosine kinase gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome.
abstract: Deoxyguanosine kinase (DGUOK) gene mutations have been identified in the hepatocerebral form of mitochondrial DNA depletion syndromes. We report here clinical and laboratory features of 3 infants with novel DGUOK gene mutations, c.130G>A (Glu44Lys), c.493G>A (Glu165Lys), and c.707+3_6delTAAG.
authors.affiliation: Division of Pediatric Neurology, Baskent University School of Medicine, Ankara, Turkey mdtanersezer@yahoo.com.
authors.forename: Taner
authors.initials: T
authors.lastname: Sezer
authors.affiliation: Division of Pediatric Gastroenterology Hepatology and Nutrition, Baskent University School of Medicine, Ankara, Turkey.
authors.forename: Figen
authors.initials: F
authors.lastname: Ozçay
authors.affiliation: Division of Pediatric Gastroenterology Hepatology and Nutrition, Baskent University School of Medicine, Ankara, Turkey.
authors.forename: Oya
authors.initials: O
authors.lastname: Balci
authors.affiliation: Division of Pediatric Neurology, Baskent University School of Medicine, Ankara, Turkey.
authors.forename: Füsun
authors.initials: F
authors.lastname: Alehan
mesh_terms: D005260:Female; D006501:Hepatic Encephalopathy / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D028361:Mitochondrial Diseases / Q000150:complications* / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*
chemical_list: D017853:Phosphotransferases (Alcohol Group Acceptor); C019165:deoxyguanosine kinase
keywords:  DGUOK mutation; hepatocerebral form; mtDNA depletion syndrome