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 (<i>AVPR2</i>) or aquaporin 2 genes, rendering collecting duct cells insensitive to the peptide hormone arginine vasopressin stimulation for water reabsorption. T...
Main Authors: | , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2021-03-01
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Series: | Biomedicines |
Subjects: | |
Online Access: | https://www.mdpi.com/2227-9059/9/3/301 |