Article
Identification and precision therapy for three maturity-onset diabetes of the young (MODY) families caused by mutations in the HNF4A gene.
Frontiers in endocrinology - 1 Jan 2023
Zhang Juan, Jiang Yanyan, Li Jianhua, Zou Haiyin, Yin Li, Yang Yang, Yang Lei
Abstract excerpt
Background: Heterozygous pathogenic variants in HNF4A gene cause maturity-onset diabetes of the young type 1 (MODY1). The mutation carriers for MODY1 have been reported to be relatively rare, in contrast to the most frequently reported forms of MODY2 and MODY3. Methods: Whole exome sequencing (WES) and Sanger sequencing were performed for genetic analysis of MODY pedigrees. Tertiary structures of the mutated...
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