Analysis of the ß-glucocerebrosidase gene in Turkish Gaucher disease patients: Mutation profile and description of a novel mutant allele

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dc.contributor.authorKaraca E.
dc.contributor.authorKalkan S.
dc.contributor.authorOnay H.
dc.contributor.authorAykut A.
dc.contributor.authorCoker M.
dc.contributor.authorÖzkınay F.
dc.date.accessioned2019-10-27T08:32:59Z
dc.date.available2019-10-27T08:32:59Z
dc.date.issued2012
dc.departmentEge Üniversitesien_US
dc.description.abstractGaucher disease (GD) is the most frequent autosomal recessive lysosomal glycolipid storage disorder characterized by a decreased lysosomal activity of the enzyme ß-glucocerebrosidase (GBA; EC 3.2.1.45). The aim of this study was to evaluate the spectrum of the GBA gene mutations in Turkish GD patients and to explore genotype/phenotype associations. The molecular characterization of 32 unrelated Turkish GD patients with three types of the disease was defined. Mutation analysis identified 96.9 % of the GD alleles. The N370S mutation had the highest prevalence (50 % ) followed by the L444P (35.5 % ) alleles. We identified a novel L385R missense mutation that is associated with type 1 GD.en_US
dc.identifier.doi10.1515/jpem-2012-0155en_US
dc.identifier.endpage962en_US
dc.identifier.issn0334-018X
dc.identifier.issue09.Octen_US
dc.identifier.pmid23426826en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage957en_US
dc.identifier.urihttps://doi.org/10.1515/jpem-2012-0155
dc.identifier.urihttps://hdl.handle.net/11454/26613
dc.identifier.volume25en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.relation.ispartofJournal of Pediatric Endocrinology and Metabolismen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectß-glucocerebrosidase geneen_US
dc.subjectGaucher diseaseen_US
dc.subjectTurkish populationen_US
dc.titleAnalysis of the ß-glucocerebrosidase gene in Turkish Gaucher disease patients: Mutation profile and description of a novel mutant alleleen_US
dc.typeArticleen_US

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