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Inheritance of mutations in the V2 receptor gene in thirteen families with nephrogenic diabetes insipidus

✍ Scribed by Knoers, Nine V A M; van den Ouweland, Ans M W; Verdijk, Marian; Monnens, Leo A H; van Oost, Bernard A


Book ID
109883734
Publisher
Nature Publishing Group
Year
1994
Tongue
English
Weight
444 KB
Volume
46
Category
Article
ISSN
0085-2538

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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