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

doi:10.1038/ki.1994.256

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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 recent...

Topics

Alleles
Base Sequence
DNA
Diabetes Insipidus, Nephrogenic
Gene Deletion
Genes
Humans
Male
Molecular Sequence Data
Mutation
Pedigree
Receptors, Vasopressin

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