Article
Two novel GCK mutations in Chinese patients with maturity-onset diabetes of the young.
Endocrine - 1 Jan 2024
Wang Tao, Zhu Mengmeng, Wang Yun, Hu Cheng, Fang Chen, Hu Ji
Abstract excerpt
PURPOSE: Heterozygous inactivating mutations in the glucokinase (GCK) gene result in the asymptomatic fasting hyperglycemia named as GCK-MODY or MODY2. The genetic testing can effectively avoid the misdiagnosis and inappropriate treatment for GCK-MODY. METHODS: A total of 25 unrelated families with MODY were screened for mutations in coding region of GCK by using direct sequencing. Three different bioinformatics...
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