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Article

A single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus.

The Journal of clinical investigation - 1 Feb 1991

Ito M, Mori Y, Oiso Y, Saito H

Abstract excerpt

To elucidate the molecular mechanism of familial central diabetes insipidus (FDI), we sequenced the arginine vasopressin-neurophysin II (AVP-NPII) gene in 2 patients belonging to a pedigree that is consistent with an autosomal dominant mode of inheritance. 10 patients with idiopathic central diabetes insipidus (IDI) and 5 normals were also studied. The AVP-NPII gene, locating on chromosome 20, consists of three...

Topics

Arginine Vasopressin
Base Sequence
Chromosomes, Human, Pair 20
DNA
Diabetes Insipidus
Exons
Humans
Molecular Sequence Data
Mutation
Neurophysins
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymerase Chain Reaction

Source

Open in PubMed Open full text

Identifiers

PMID: 1840604
DOI: 10.1172/JCI115052
PMCID: PMC296365

Genes

AVP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1840604-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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A single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus.PMID 1840604Read ↗

Identification of a novel mutation in the arginine vasopressin-neurophysin II gene in familial central diabetes insipidus.Semantic proximity Read ↗

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Identification of mutations of the arginine vasopressin-neurophysin II gene in two kindreds with familial central diabetes insipidus.Semantic proximity Read ↗

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A novel mutation in the coding region for neurophysin-II is associated with autosomal dominant neurohypophyseal diabetes insipidus.Semantic proximity Read ↗

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