Analysis of the GCK gene in 79 MODY type 2 patients: A multicenter Turkish study, mutation profile and description of twenty novel mutations

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dc.contributor.authorAykut, A
dc.contributor.authorKaraca, E
dc.contributor.authorOnay, H
dc.contributor.authorGöksen, D
dc.contributor.authorÇetinkalp, S
dc.contributor.authorEren, E
dc.contributor.authorErsoy, B
dc.contributor.authorÇakir, EP
dc.contributor.authorBüyükinan, M
dc.contributor.authorKara, C
dc.contributor.authorAnik, A
dc.contributor.authorKirel, B
dc.contributor.authorÖzen, S
dc.contributor.authorAtik, T
dc.contributor.authorDarcan, S
dc.contributor.authorÖzkinay, F
dc.date.accessioned2024-07-18T12:07:44Z
dc.date.available2024-07-18T12:07:44Z
dc.description.abstractMaturity onset diabetes is a genetic form of diabetes mellitus characterized by an early age at onset and several etiologic genes for this form of diabetes have been identified in many patients. Maturity onset diabetes type 2 [MODY2 (#125851)] caused by mutations in the glucokinase gene (GCK). Although its prevalence is not clear, it is estimated that 1%-2% of patients with diabetes have the monogenic form. The aim of this study was to evaluate the molecular spectrum of GCK gene mutations in 177 Turkish MODY type 2 patients. Mutations in the GCK gene were identified in 79 out of 177. All mutant alleles were identified, including 45 different GCK mutations, 20 of which were novel.
dc.identifier.issn0378-1119
dc.identifier.other1879-0038
dc.identifier.urihttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/10597
dc.language.isoEnglish
dc.publisherELSEVIER SCIENCE BV
dc.subjectGLUCOKINASE MUTATIONS
dc.subjectMISSENSE MUTATIONS
dc.subjectDIABETES-MELLITUS
dc.subjectYOUNG MODY
dc.subjectONSET
dc.subjectCHILDREN
dc.subjectIDENTIFICATION
dc.subjectDIAGNOSIS
dc.subjectFAMILIES
dc.titleAnalysis of the GCK gene in 79 MODY type 2 patients: A multicenter Turkish study, mutation profile and description of twenty novel mutations
dc.typeArticle

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