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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Detalles Bibliográficos
Autores principales: Li, Qian, Lu, Bichao, Yang, Jia, Li, Chao, Li, Yanchun, Chen, Hui, Li, Naishi, Duan, Lian, Gu, Feng, Zhang, Jianmin, Xia, Weibo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8429928/
https://www.ncbi.nlm.nih.gov/pubmed/34512542
http://dx.doi.org/10.3389/fendo.2021.665145

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