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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...

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Identifiers

PMID: 1840604
DOI: 10.1172/JCI115052
PMCID: PMC296365

Genes

AVP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 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 ↗

A novel mutation (R97C) in the neurophysin moiety of prepro-vasopressin-neurophysin II associated with autosomal-dominant neurohypophyseal diabetes insipidus.Semantic proximity Read ↗

Two novel mutations in the coding region for neurophysin-II associated with familial central diabetes insipidus.Semantic proximity Read ↗

A new mutation of the arginine vasopressin-neurophysin II gene in a family with autosomal dominant neurohypophyseal diabetes insipidus.Semantic proximity Read ↗

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

A new type of familial central diabetes insipidus caused by a single base substitution in the neurophysin II coding region of the vasopressin gene.Semantic proximity Read ↗

A missense mutation encoding cys(67) --> gly in neurophysin ii is associated with early onset autosomal dominant neurohypophyseal diabetes insipidus.Semantic proximity Read ↗

A missense mutation encoding Cys73Phe in neurophysin II is associated with autosomal dominant neurohypophyseal diabetes insipidus.Semantic proximity Read ↗

Identification of a novel nonsense mutation and a missense substitution in the vasopressin-neurophysin II gene in two Spanish kindreds with familial neurohypophyseal 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 ↗

Autosomal dominant neurohypophyseal diabetes insipidus associated with a missense mutation encoding Gly23-->Val in neurophysin II.Semantic proximity Read ↗

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