A novel AVPR2 missense mutation in an Asian family with inherited nephrogenic diabetes insipidus
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference22 articles.
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2. Nephrogenic diabetes insipidus: essential insights into the molecular background and potential therapies for treatment;Moeller;Endocr Rev,2013
3. The physiological and pathophysiological functions of renal and extrarenal vasopressin V2 receptors;Juul;Am J Physiol Renal Physiol,2014
4. Characteristics of the cAMP response unit;Montminy;Metabolism,1990
5. AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance;Spanakis;J Cell Physiol,2014
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1. Oral disintegrating desmopressin tablet is effective for partial congenital nephrogenic diabetes insipidus with AVPR2 mutation: a case report;CLIN PEDIATR ENDOCRI;2022
2. Oral disintegrating desmopressin tablet is effective for partial congenital nephrogenic diabetes insipidus with <i>AVPR2</i> mutation: a case report;Clinical Pediatric Endocrinology;2022
3. A female with X‐linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus: Case report and review of the literature;American Journal of Medical Genetics Part A;2020-02-19
4. Identification of a Novel Arginine Vasopressin Receptor 2 Mutation (p.V183M) in a Chinese Family with Nephrogenic Diabetes Insipidus;Molecular Syndromology;2020
5. Evaluation of pharmacochaperone-mediated rescue of mutant V2 receptor proteins;European Journal of Pharmacology;2019-12
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