Article
Functional characterization of novel loss-of-function mutations in the vasopressin type 2 receptor gene causing nephrogenic diabetes insipidus.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Apr 2012
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 excerpt
BACKGROUND: X-linked nephrogenic diabetes insipidus (NDI) is a rare polyuric disorder caused by inactivating mutations in the arginine vasopressin receptor Type 2 (AVPR2) gene. METHODS: NDI patients from six unrelated families were subjected to mutational analysis of the AVPR2 gene. In-depth in vitro characterization of novel AVPR2 mutants by a combination of functional and immunological techniques provided...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.