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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.authorscopusid16038685000
dc.authorscopusid6602888517
dc.authorscopusid8929131500
dc.authorscopusid6603109306
dc.authorscopusid6505803191
dc.authorscopusid36113153400
dc.authorscopusid6603825651
dc.contributor.authorAykut, A.
dc.contributor.authorKaraca, E.
dc.contributor.authorÖnay, H.
dc.contributor.authorGökşen, D.
dc.contributor.authorÇetinkalp, Ş.
dc.contributor.authorEren, E.
dc.contributor.authorErsoy, B.
dc.date.accessioned2020-06-21T13:11:52Z
dc.date.available2020-06-21T13:11:52Z
dc.date.issued2018
dc.departmentOndokuz Mayıs Üniversitesien_US
dc.department-temp[Aykut] Ayça, Department of Medical Genetics, Ege Üniversitesi, Izmir, Turkey; [Karaca] Emin, Department of Medical Genetics, Ege Üniversitesi, Izmir, Turkey; [Önay] Hüseyin Hamza, Department of Medical Genetics, Ege Üniversitesi, Izmir, Turkey; [Gökşen] Damla, Department of Pediatrics, Ege Üniversitesi, Izmir, Turkey; [Çetinkalp] Şevki S., Department of Internal Medicine, Ege Üniversitesi, Izmir, Turkey; [Eren] Erdal, Department of Pediatrics, Bursa Uludağ Üniversitesi, Bursa, Bursa, Turkey; [Ersoy] Betül, Department of Pediatrics, Manisa Celâl Bayar Üniversitesi, Manisa, Manisa, Turkey; [Çakir] Esra Papatya, Department of Pediatrics, Bursa Sevket Yilmaz Education and Research Hospital, Bursa, Turkey; [Büyükinan] Muammer,; [Kara] Cengiz, Department of Pediatrics, Ondokuz Mayis Üniversitesi, Samsun, Turkey; [Anık] Ahmet, Department of Pediatrics, Dokuz Eylül Üniversitesi, Izmir, Turkey; [Kirel] Birgül, Department of Pediatrics, Eskişehir Osmangazi Üniversitesi, Eskisehir, Eskisehir, Turkey; [Özen] Samim, Department of Pediatrics, Ege Üniversitesi, Izmir, Turkey; [Atik] Tahir, Department of Pediatrics, Ege Üniversitesi, Izmir, Turkey; [Darcan] Şükran, Department of Pediatrics, Ege Üniversitesi, Izmir, Turkey; [Özkinay] Ferda Ferds, Department of Medical Genetics, Ege Üniversitesi, Izmir, Turkey, Department of Pediatrics, Ege Üniversitesi, Izmir, Turkeyen_US
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. © 2017en_US
dc.identifier.doi10.1016/j.gene.2017.10.057
dc.identifier.endpage189en_US
dc.identifier.issn0378-1119
dc.identifier.issn1879-0038
dc.identifier.pmid29056535
dc.identifier.scopus2-s2.0-85033435005
dc.identifier.scopusqualityQ2
dc.identifier.startpage186en_US
dc.identifier.urihttps://doi.org/10.1016/j.gene.2017.10.057
dc.identifier.urihttps://hdl.handle.net/20.500.12712/11777
dc.identifier.volume641en_US
dc.identifier.wosWOS:000416616300025
dc.identifier.wosqualityQ3
dc.language.isoenen_US
dc.publisherElsevier B.V.en_US
dc.relation.ispartofGeneen_US
dc.relation.journalGeneen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectGCK Geneen_US
dc.subjectMODYen_US
dc.subjectTurkish Populationen_US
dc.titleAnalysis of the GCK Gene in 79 MODY Type 2 Patients: A Multicenter Turkish Study, Mutation Profile and Description of Twenty Novel Mutationsen_US
dc.typeArticleen_US
dspace.entity.typePublication

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