Article
Identification of Ala2Thr mutation in insulin gene from a Chinese MODY10 family.
Molecular and cellular biochemistry - 1 Jul 2020
Zhang Juan, Liu Yanjun, Li Ming, Ge Xiaoxu, Wang Ying, Huang Xin, Yang Di, Zhang Rong, Chen Yating, Lu Ming, Yin Jun, Song Mingqiang, Wang Yongfeng, Wang Yanzhong, Wang Feng, Jiang Meisheng, Liu Limei
Abstract excerpt
More than 80% of maturity-onset diabetes of the young (MODY) in Chinese is genetically unexplained. To investigate whether the insulin gene (INS) mutation is responsible for some Chinese MODY, we screened INS mutations causing MODY10 in MODY pedigrees and explored the potential pathogenic mechanisms. INS mutations were screened in 56 MODY familial probands. Structure-function characterization and clinical...
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