Novel Deoxyguanosine Kinase Gene Mutations in the Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome

Sezer, TanerOzcay, FigenBalci, OyaAlehan, Fusun2024-03-082024-03-0820150883-0738http://hdl.handle.net/11727/11750Deoxyguanosine 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.enginfo:eu-repo/semantics/closedAccessDGUOK mutationmtDNA depletion syndromehepatocerebral formNovel Deoxyguanosine Kinase Gene Mutations in the Hepatocerebral Form of Mitochondrial DNA Depletion Syndromearticle3011241280003469085000232-s2.0-849276736841708-8283