Article
Inheritance of mutations in the V2 receptor gene in thirteen families with nephrogenic diabetes insipidus.
Kidney international - 1 Jul 1994
Knoers N V, van den Ouweland A M, Verdijk M, Monnens L A, van Oost B A
Abstract excerpt
Congenital nephrogenic diabetes insipidus (NDI) is an X-linked recessive disease characterized by insensitivity of the distal nephron to the antidiuretic effect of arginine vasopressin. The hypothesis that the defect underlying NDI might be a dysfunctional renal vasopressin V2 receptor has recently been proven by the identification of mutations in the V2 receptor gene in NDI patients. We examined thirteen...
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