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Article

Two novel mutations in the aquaporin-2 and the vasopressin V2 receptor genes in patients with congenital nephrogenic diabetes insipidus.

Human genetics - 1 Nov 1996

Oksche A, Möller A, Dickson J, Rosendahl W, Rascher W, Bichet D G, Rosenthal W

Abstract excerpt

The vasopressin V2 receptor (V2R) and the aquaporin-2 genes of two unrelated male patients with congenital nephrogenic diabetes insipidus were analyzed. The V2R gene of the patient of family 1 had the wild-type sequence. Consequently, the coding region of the aquaporin-2 gene including the exon-i...

Topics

Amino Acid Sequence
Aquaporin 2
Aquaporin 6
Aquaporins
DNA Mutational Analysis
Diabetes Insipidus, Nephrogenic
Female
Gene Deletion
Humans
Infant
Ion Channels
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Models, Molecular

Molecular Sequence Data

Mutation

Receptors, Vasopressin

Restriction Mapping

Source

Identifiers

PMID: 8882880
DOI: 10.1007/s004390050264

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8882880-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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Two novel mutations in the aquaporin-2 and the vasopressin V2 receptor genes in patients with congenital nephrogenic diabetes insipidus.PMID 8882880Read ↗

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