Clinical and Functional Characterization of a Novel Mutation in AVPR2 Causing Nephrogenic Diabetes Insipidus in a Four-Generation Chinese Family

Background: Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disease that is caused by mutations in arginine vasopressin receptor 2 (AVPR2) or aquaporin 2 (AQP2). Functional analysis of the mutated receptor is necessary to verify the impact of the mutation on receptor function an...

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Detalles Bibliográficos
Autores principales: Guo, Shusen, Wu, Shimin, Li, Zhuxi, Huang, Lianjing, Zhan, Di, Zhang, Cai, Luo, Xiaoping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8696154/
https://www.ncbi.nlm.nih.gov/pubmed/34956990
http://dx.doi.org/10.3389/fped.2021.790194

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8696154/
https://www.ncbi.nlm.nih.gov/pubmed/34956990
http://dx.doi.org/10.3389/fped.2021.790194

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