Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus.

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Article

Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus.

American journal of human genetics - 1 Aug 1994

Wildin R S, Antush M J, Bennett R L, Schoof J M, Scott C R

Abstract excerpt

Mutations in the AVPR2 gene encoding the receptor for arginine vasopressin in the kidney (V2 ADHR) have been reported in patients with congenital nephrogenic diabetes insipidus, a predominantly X-linked disorder of water homeostasis. We have used restriction-enzyme analysis and direct DNA sequenc...

Topics

Arginine Vasopressin
Base Sequence
Crossing Over, Genetic
DNA Mutational Analysis
Deoxyribonucleases, Type II Site-Specific
Diabetes Insipidus
Electrophoresis, Polyacrylamide Gel
Frameshift Mutation
Humans
Infant
Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Kidney Diseases

Male

Molecular Sequence Data

Mutation

Oligonucleotide Probes

Pedigree

Point Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 7913579
PMCID: PMC1918356

Genes

AVPR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7913579-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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