Molecular Characterization of an Aquaporin−2 Mutation Causing Nephrogenic Diabetes Insipidus

The aquaporin 2 (AQP2) plays a critical role in water reabsorption to maintain water homeostasis. AQP2 mutation leads to nephrogenic diabetes insipidus (NDI), characterized by polyuria, polydipsia, and hypernatremia. We previously reported that a novel AQP2 mutation (G215S) caused NDI in a boy. In t...

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Bibliografiske detaljer

Principais autores:	Qian Li, Bichao Lu, Jia Yang, Chao Li, Yanchun Li, Hui Chen, Naishi Li, Lian Duan, Feng Gu, Jianmin Zhang, Weibo Xia
Format:	Artigo
Sprog:	Inglês
Udgivet:	Frontiers Media S.A. 2021-08-01
Serier:	Frontiers in Endocrinology
Fag:	aquaporin 2 nephrogenic diabetes insipidus water reabsorption polydipsia hypernatremia
Online adgang:	https://www.frontiersin.org/articles/10.3389/fendo.2021.665145/full
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