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Article

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

The Journal of clinical endocrinology and metabolism - 1 May 1996

Ueta Y, Taniguchi S, Yoshida A, Murakami I, Mitani Y, Hisatome I, Manabe I, Sato R, Tsuboi M, Ohtahara A, Nanba E, Shigemasa C

Abstract excerpt

We studied the genetic basis of familial neurohypophyseal diabetes insipidus in a Japanese family. The members had polyuria and a deficiency of plasma vasopressin (AVP). Polymerase chain reaction (PCR) amplified exons of the AVP-neurophysin-II gene were subcloned and sequenced. Exons 1 and 3 were normal, but nucleotide 1884 Guanine (G) in exon 2 was substituted with Thymine (T), which induced a substitution of...

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Identifiers

PMID: 8626836
DOI: 10.1210/jcem.81.5.8626836

Genes

AVP

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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 new type of familial central diabetes insipidus caused by a single base substitution in the neurophysin II coding region of the vasopressin gene.PMID 8626836Read ↗

A novel splice site mutation of the arginine vasopressin-neurophysin II gene identified in a kindred with autosomal dominant familial 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 ↗

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

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

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Central Diabetes Insipidus Caused by Arginine Vasopressin Gene Mutation: Report of a Novel Mutation and Review of Literature.Semantic proximity Read ↗

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