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Functional Characterization of a Novel Heterozygous Mutation in the Glucokinase Gene That Causes MODY2 in Chinese Pedigrees

BACKGROUND: Glucokinase (GCK) plays a central role in glucose regulation. The heterozygous mutations of GCK can cause a monogenic form of diabetes, maturity-onset diabetes of the young (MODY) directly. In our study, we aimed to explore the mechanism of the novel mutation GCK p.Ala259Thr leading to g...

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Detalles Bibliográficos
Autores principales: Jiang, Feng, Yan, Jing, Zhang, Rong, Ma, Xiaojing, Bao, Yuqian, Gu, Yujuan, Hu, Cheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8695754/
https://www.ncbi.nlm.nih.gov/pubmed/34956103
http://dx.doi.org/10.3389/fendo.2021.803992