Aykut, AyçaKaraca, EminOnay, HüseyinGökşen, DamlaÇetinkalp, ŞevkiErsoy, BetülÇakır, Esra PapatyaBüyükinan, MuammerKara, CengizAnık, AhmetKırel, BirgülÖzen, SamimAtik, TahirDarcan, ŞükranÖzkınay, Ferda2023-10-312023-10-312018-01-30Aykut, A. vd. (2018). ''Analysis of the GCK gene in 79 MODY type 2 patients: A multicenter Turkish study, mutation profile and description of twenty novel mutations''. Gene, 641, 186-189.0378-11191879-0038https://doi.org/10.1016/j.gene.2017.10.057https://www.sciencedirect.com/science/article/pii/S0378111917309034http://hdl.handle.net/11452/34691Maturity 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.eninfo:eu-repo/semantics/closedAccessGenetics & heredityMODYGCK geneTurkish populationGlucokinase mutationsMissense mutationsDiabetes-mellitusYoung modyOnsetChildrenIdentificationDiagnosisFamiliesAdolescentAdultAllelesChildChild, preschoolDiabetes mellitus, type 2FemaleHumansInfantMaleMiddle agedMutationPrevalenceProtein-serine-threonine kinasesTurkeyYoung adultArticle0004166163000252-s2.0-8503343500518618964129056535Genetics & heredityMason-Type Diabetes; Type 3 Maturity-Onset Diabete of the Young; Renal Cysts and Diabetes SyndromeGlucokinaseGerminal center kinasesProtein serine threonine kinaseAdolescentAdultAmino acid sequenceArticleChildCohort analysisFemaleFrameshift mutationGeneGene mutationGene sequenceGenetic analysisHumanIndel mutationInfantMajor clinical studyMaleMissense mutationMulticenter studyNon insulin dependent diabetes mellitusPriority journalSingle nucleotide polymorphismTurk (people)AlleleClinical trialGeneticsMiddle agedMutationNon insulin dependent diabetes mellitusPreschool childPrevalenceYoung adult