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International Journal of Diabetes in Developing Countries

Erschienen in:

01.12.2016 | Case Report

A novel genetic mutation in a Turkish family with GCK-MODY

verfasst von: S. Ahmet Ucakturk, Figen Gunindi, Serdar Ceylaner, Eda Mengen, Selin Elmaogulları, Bilgin Yuksel

Erschienen in: International Journal of Diabetes in Developing Countries | Ausgabe 3/2017

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Abstract

Glucokinase-maturity-onset diabetes of the young (GCK-MODY) is an autosomal dominantly inherited disease caused by heterozygous inactivating mutations in the glucokinase gene. It usually presents with mild fasting hyperglycemia. Here, we present an obese patient and her family with GCK-MODY caused by a novel heterozygous p.E51^*(c.151.G>T) mutation in the GCK gene.

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Titel: A novel genetic mutation in a Turkish family with GCK-MODY
verfasst von: S. Ahmet Ucakturk
Figen Gunindi
Serdar Ceylaner
Eda Mengen
Selin Elmaogulları
Bilgin Yuksel
Publikationsdatum: 01.12.2016
Verlag: Springer India
Erschienen in: International Journal of Diabetes in Developing Countries / Ausgabe 3/2017
Print ISSN: 0973-3930
Elektronische ISSN: 1998-3832
DOI: https://doi.org/10.1007/s13410-016-0539-9

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