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- Title
Functional characterization of novel loss-of-function mutations in the vasopressin type 2 receptor gene causing nephrogenic diabetes insipidus.
- Authors
Böselt, Iris; Tramma, Despoina; Kalamitsou, Serafia; Niemeyer, Thomas; Nykänen, Päivi; Gräf, Klaus-Jürgen; Krude, Heiko; Marenzi, Karen Sabrina; Di Candia, Stefania; Schöneberg, Torsten; Schulz, Angela
- Abstract
X-linked nephrogenic diabetes insipidus (NDI) is a rare polyuric disorder caused by inactivating mutations in the arginine vasopressin receptor Type 2 (AVPR2) gene.
- Publication
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 2012, Vol 27, Issue 4, p1521
- ISSN
1460-2385
- Publication type
Journal Article
- DOI
10.1093/ndt/gfr487