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

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dc.contributor.authorSezer, Taner
dc.contributor.authorOzcay, Figen
dc.contributor.authorBalci, Oya
dc.contributor.authorAlehan, Fusun
dc.contributor.orcID0000-0002-5214-516Xen_US
dc.contributor.orcID0000-0002-2278-1827en_US
dc.contributor.orcID0000-0002-8402-8208en_US
dc.contributor.pubmedID24423689en_US
dc.contributor.researcherIDABG-5684-2020en_US
dc.contributor.researcherIDAAJ-5931-2021en_US
dc.contributor.researcherIDAAI-9346-2021en_US
dc.date.accessioned2024-03-08T07:22:16Z
dc.date.available2024-03-08T07:22:16Z
dc.date.issued2015
dc.description.abstractDeoxyguanosine 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.en_US
dc.identifier.eissn1708-8283en_US
dc.identifier.endpage128en_US
dc.identifier.issn0883-0738en_US
dc.identifier.issue1en_US
dc.identifier.scopus2-s2.0-84927673684en_US
dc.identifier.startpage124en_US
dc.identifier.urihttp://hdl.handle.net/11727/11750
dc.identifier.volume30en_US
dc.identifier.wos000346908500023en_US
dc.language.isoengen_US
dc.relation.isversionof10.1177/0883073813517000en_US
dc.relation.journalJOURNAL OF CHILD NEUROLOGYen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergien_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectDGUOK mutationen_US
dc.subjectmtDNA depletion syndromeen_US
dc.subjecthepatocerebral formen_US
dc.titleNovel Deoxyguanosine Kinase Gene Mutations in the Hepatocerebral Form of Mitochondrial DNA Depletion Syndromeen_US
dc.typeArticleen_US

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