Identification of a Novel Arginine Vasopressin Receptor 2 Mutation (p.V183M) in a Chinese Family with Nephrogenic Diabetes Insipidus
Author:
Publisher
S. Karger AG
Subject
Genetics(clinical),Genetics
Reference26 articles.
1. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, et al: A method and server for predicting damaging missense mutations. Nat Methods 7:248-249 (2010).
2. Bichet DG, Bockenhauer D: Genetic forms of nephrogenic diabetes insipidus (NDI): vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant). Best Pract Res Clin Endocrinol Metab 30:263-276 (2016).
3. Bockenhauer D, Bichet DG: Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus. Nat Rev Nephrol 11:576-588 (2015).
4. Boson WL, Della Manna T, Damiani D, Miranda DM, Gadelha MR, et al: Novel vasopressin type 2 (AVPR2) gene mutations in Brazilian nephrogenic diabetes insipidus patients. Genet Test 10:157-162 (2006).
5. Caletti MG, Balestracci A, Di Pinto D: Pre- and post-treatment urinary tract findings in children with nephrogenic diabetes insipidus. Pediatr Nephrol 29:487-490 (2014).
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