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Two Novel Mutations in the Vasopressin V2 Receptor Gene in Patients with Congenital Nephrogenic Diabetes Insipidus

✍ Scribed by A. Oksche; J. Dickson; R. Schulein; H.W. Seyberth; M. Muller; W. Rascher; M. Birnbaumer; W. Rosenthal

Book ID
115575726
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
326 KB
Volume
205
Category
Article
ISSN
0006-291X

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Nephrogenic diabetes insipidus (NDI) is a rare, mostly X-linked recessive disorder characterized by renal tubular resistance to the antidiuretic effect of arginine vasopressin. The gene responsible for the X-linked NDI, the G-protein-coupled vasopressin V2 receptor, has been localized on the Xq28 re