Article
Functional characterization of a loss-of-function mutant I324M of arginine vasopressin receptor 2 in X-linked nephrogenic diabetes insipidus.
Scientific reports - 26 May 2021
Wang Lixia, Guo Weihong, Fang Chunyun, Feng Wenli, Huang Yumeng, Zhang Xiaona, Liu Ming, Cui Jingqiu
Abstract excerpt
X-linked nephrogenic diabetes insipidus (X-linked NDI) is a rare inherited disease mainly caused by lost-of-function mutations in human AVPR2 gene encoding arginine vasopressin receptor 2 (V2R). Our focus of the current study is on exploration of the functional and biochemical properties of Ile324Met (I324M) mutation identified in a pedigree showing as typical recessive X-linked NDI. We demonstrated that I324M...
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