A rare splice site mutation in the gene encoding glucokinase/hexokinase 4 in a patient with MODY type 2

A rare splice site mutation in the gene encoding glucokinase/hexokinase 4 in a patient with MODY type 2

The article presents a variant of maturity onset diabetes of the young type 2, caused by a rare mutation in the GCK gene. Maturity onset diabetes of the young (MODY) is a hereditary form of diabetes with an autosomal dominant type of inheritance, an onset at a young age, and a primary defect in panc...

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Bibliographic Details
Main Authors: D. E. Ivanoshchuk, E. V. Shakhtshneider, A. K. Ovsyannikova, S. V. Mikhailova, O. D. Rymar, V. I. Oblaukhova, A. A. Yurchenko, M. I. Voevoda
Format: Article
Language:English
Published: Siberian Branch of the Russian Academy of Sciences, Federal Research Center Institute of Cytology and Genetics, The Vavilov Society of Geneticists and Breeders 2020-05-01
Series:Вавиловский журнал генетики и селекции
Subjects:
human
maturity onset diabetes of the young
mody2
glucokinase gene
next-generation sequencing
genetic analysis
bioinformatics
Online Access:https://vavilov.elpub.ru/jour/article/view/2458
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