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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| Autors principals: | , , , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Frontiers Media S.A.
2021-08-01
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| Col·lecció: | Frontiers in Endocrinology |
| Matèries: | |
| Accés en línia: | https://www.frontiersin.org/articles/10.3389/fendo.2021.665145/full |
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