Article
Clinical and Functional Characteristics of a Novel KLF11 Cys354Phe Variant Involved in Maturity-Onset Diabetes of the Young.
Journal of diabetes research - 1 Jan 2021
Sun Yujing, Qu Jingru, Wang Jing, Zhao Ruxing, Wang Chuan, Chen Li, Hou Xinguo
Abstract excerpt
BACKGROUND: Mutations in human KLF11 may lead to the development of maturity-onset diabetes of the young 7 (MODY7). This occurs due to impaired insulin synthesis in the pancreas. To date, the clinical and functional characteristics of the novel KLF11 mutation c.1061G > T have not yet been reported. METHODS: Whole-exon sequencing was used to screen the proband and family members with clinical suspicion of the...
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