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Mutations in the V2 vasopressin receptor gene are associated with X–linked nephrogenic diabetes insipidus

✍ Scribed by Pan, Yang; Metzenberg, Aida; Das, Soma; Jing, Biqi; Gitschier, Jane


Book ID
109918190
Publisher
Nature Publishing Group
Year
1992
Tongue
English
Weight
367 KB
Volume
2
Category
Article
ISSN
1061-4036

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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