Article
The property of a novel v2 receptor mutant in a patient with nephrogenic diabetes insipidus.
The Journal of clinical endocrinology and metabolism - 1 Jan 2001
Inaba S, Hatakeyama H, Taniguchi N, Miyamori I
Abstract excerpt
Nephrogenic diabetes insipidus (NDI) is characterized by resistance of the kidneys to the action of arginine vasopressin (AVP); X-linked recessive NDI is caused by an inactivating mutation of the vasopressin type-2 (V2) receptor. Several missense mutations in the first or second extracellular loop of the V2 receptor have been reported, and some of these mutant receptors were confirmed to have reduced affinities...
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