A missense mutation in the vasopressin-neurophysin precursor gene cosegregates with human autosomal dominant neurohypophyseal diabetes insipidus.

doi:10.1002/j.1460-2075.1992.tb05022.x

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Article

A missense mutation in the vasopressin-neurophysin precursor gene cosegregates with human autosomal dominant neurohypophyseal diabetes insipidus.

The EMBO journal - 1 Jan 1992

Bahnsen U, Oosting P, Swaab D F, Nahke P, Richter D, Schmale H

Abstract excerpt

Familial neurohypophyseal diabetes insipidus in humans is a rare disease transmitted as an autosomal dominant trait. Affected individuals have very low or undetectable levels of circulating vasopressin and suffer from polydipsia and polyuria. An obvious candidate gene for the disease is the vasopressin-neurophysin (AVP-NP) precursor gene on human chromosome 20. The 2 kb gene with three exons encodes a composite...

Topics

Alleles
Amino Acid Sequence
Arginine Vasopressin
Base Sequence
Diabetes Insipidus
Exons
Female
Genetic Variation
Heterozygote
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

Neurophysins

Nucleic Acid Hybridization

Pedigree

Phenotype

Pituitary Gland, Posterior

Source

Open in PubMed Open full text

Identifiers

PMID: 1740104
DOI: 10.1002/j.1460-2075.1992.tb05022.x
PMCID: PMC556420

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1740104-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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