Author:
Joshi Shivani,Kvistgaard Helene,Kamperis Konstantinos,Færch Mia,Hagstrøm Søren,Gregersen Niels,Rittig Søren,Christensen Jane Hvarregaard
Funder
Familien Hede Nielsens Fond
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology, and Child Health
Reference15 articles.
1. Abrol R, Kim SK, Bray JK, Griffith AR, Goddard WA III (2011) Characterizing and predicting the functional and conformational diversity of seven-transmembrane proteins. Methods 55(4):405–414.
https://doi.org/10.1016/j.ymeth.2011.12.005
2. Bichet DG, Bockenhauer D (2016) 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(2):263–276.
https://doi.org/10.1016/j.beem.2016.02.010
3. Bichet DG, Arthus MF, Lonergan M, Hendy GN, Paradis AJ, Fujiwara TM, Morgan K, Gregory MC, Rosenthal W, Didwania A et al (1993) X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis. J Clin Invest 92(3):1262–1268.
https://doi.org/10.1172/JCI116698
4. Bichet DG, Birnbaumer M, Lonergan M, Arthus MF, Rosenthal W, Goodyer P, Nivet H, Benoit S, Giampietro P, Simonetti S et al (1994) Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus. Am J Hum Genet 55(2):278–286
5. Boselt I, Tramma D, Kalamitsou S, Niemeyer T, Nykanen P, Graf KJ, Krude H, Marenzi KS, Di Candia S, Schoneberg T, Schulz A (2012) Functional characterization of novel loss-of-function mutations in the vasopressin type 2 receptor gene causing nephrogenic diabetes insipidus. Nephrol Dial Transplant 27(4):1521–1528.
https://doi.org/10.1093/ndt/gfr487
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