Valine-279 Deletion–Mutation on Arginine Vasopressin Receptor 2 Causes Obstruction in G-Protein Binding Site: A Clinical Nephrogenic Diabetes Insipidus Case and Its Sub-Molecular Pathogenic Analysis

Congenital nephrogenic diabetes insipidus (CNDI) is a genetic disorder caused by mutations in arginine vasopressin receptor 2 (AVPR2) or aquaporin 2 genes, rendering collecting duct cells insensitive to the peptide hormone arginine vasopressin stimulation for water reabsorption. This study reports a...

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Detalles Bibliográficos
Autores principales: Chen, Ming-Chun, Hsiao, Yu-Chao, Chang, Chun-Chun, Pan, Sheng-Feng, Peng, Chih-Wen, Li, Ya-Tzu, Liu, Cheng-Der, Liou, Je-Wen, Hsu, Hao-Jen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8002004/
https://www.ncbi.nlm.nih.gov/pubmed/33804115
http://dx.doi.org/10.3390/biomedicines9030301

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