Erdélyi, László Sándor; Mann, Alexander W; Morris-Rosendahl, Deborah J; Groß, Ute; Nagel, Mato; Várnai, Péter; Balla, András; Hunyady, László
(2015)
Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a recently discovered rare disease caused by gain-of-function mutations of the V2 vasopressin receptor gene, AVPR2. To date, mutations of Phe229 and Arg137 have ...