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Two Vasopressin Type 2 Receptor Gene Mutations R143P and ΔV278 in Patients with Nephrogenic Diabetes Insipidus Impair Ligand Binding of the Receptor

✍ Scribed by H. Tsukaguchi; H. Matsubara; Y. Mori; Y. Yoshimasa; T. Yoshimasa; K. Nakao; M. Inada


Book ID
115576831
Publisher
Elsevier Science
Year
1995
Tongue
English
Weight
526 KB
Volume
211
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