Functional characterization of a loss-of-function mutant I324M of arginine vasopressin receptor 2 in X-linked nephrogenic diabetes insipidus

Abstract 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...

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Autores principales: Lixia Wang, Weihong Guo, Chunyun Fang, Wenli Feng, Yumeng Huang, Xiaona Zhang, Ming Liu, Jingqiu Cui
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
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Acceso en línea:https://doaj.org/article/0fc457740b264d7d9a3ec219ff97a940
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