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

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 Ile324Me...

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Publicado en:Sci Rep
Main Authors: Wang, Lixia, Guo, Weihong, Fang, Chunyun, Feng, Wenli, Huang, Yumeng, Zhang, Xiaona, Liu, Ming, Cui, Jingqiu
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group UK 2021
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC8154955/
https://ncbi.nlm.nih.gov/pubmed/34040143
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-021-90736-z
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