Novel AQP2 Mutations and Clinical Characteristics in Seven Chinese Families With Congenital Nephrogenic Diabetes Insipidus

OBJECTIVE: Mutations in AQP2 (aquaporin-2) lead to rare congenital nephrogenic diabetes insipidus (NDI), which has been limitedly studied in Chinese population. METHODS: Twenty-five subjects from seven families with NDI in a department (Beijing, PUMCH) were screened for AQP2 mutations. Clinical char...

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Detalles Bibliográficos
Autores principales: Li, Qian, Tian, Dan, Cen, Jing, Duan, Lian, 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/PMC8225504/
https://www.ncbi.nlm.nih.gov/pubmed/34177810
http://dx.doi.org/10.3389/fendo.2021.686818

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8225504/
https://www.ncbi.nlm.nih.gov/pubmed/34177810
http://dx.doi.org/10.3389/fendo.2021.686818

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