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Effect of mutation at c.493T>C locus of transcription factor HNF1α gene on its protein level.

Yi chuan = Hereditas - 20 Mar 2024

Liang Shu-Jie, Peng Yi-Hua, Lei Jia-Hong, Jia Ai-Min, Jiang Hong, Cai Yan

Abstract excerpt

Hepatocyte nuclear factor 1α (HNF1α) is a transcription factor that is crucial for the regulation to maintain the function of pancreatic β-cell, hepatic lipid metabolism, and other processes. Mature-onset diabetes of the young type 3 is a monogenic form of diabetes caused by HNF1α mutations. Although several mutation sites have been reported, the specific mechanisms remain unclear, such hot-spot mutation as the...

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PMID: 38632103
DOI: 10.16288/j.yczz.23-274

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