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Two Novel Mutations in the Vasopressin V2 Receptor Gene in Unrelated Japanese Kindreds with Nephrogenic Diabetes Insipidus

✍ Scribed by H. Tsukaguchi; H. Matsubara; S. Aritaki; T. Kimura; S. Abe; M. Inada


Book ID
115573949
Publisher
Elsevier Science
Year
1993
Tongue
English
Weight
630 KB
Volume
197
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