Article
Two vasopressin type 2 receptor gene mutations R143P and delta V278 in patients with nephrogenic diabetes insipidus impair ligand binding of the receptor.
Biochemical and biophysical research communications - 26 Jun 1995
Tsukaguchi H, Matsubara H, Mori Y, Yoshimasa Y, Yoshimasa T, Nakao K, Inada M
Abstract excerpt
We recently identified vasopressin type 2 receptor gene mutations in two unrelated Japanese families with X-linked nephrogenic diabetes insipidus, which were a missense mutation from Arg143 to Pro (R143P) and a single amino acid deletion of Val278 or 279 (delta V278). To investigate the mechanism by which the mutations cause arginine vasopressin (AVP) resistance in this disorder, we expressed them in mammalian...
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