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Article

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

Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association - 1 May 2002

Bullmann C, Kotzka J, Grimm T, Heppner C, Jockenhövel F, Krone W, Müller-Wieland D

Abstract excerpt

Familial central diabetes insipidus is an inherited disease of predominant autosomal dominant trait characterized by a deficiency of arginine vasopressin. The arginine vasopressin-neurophysin II ( AVP-NPII) gene consists of three exons and is located on chromosome 20p13 encoding for the precursor protein of AVP. We investigated two Caucasian families with a typical autosomal dominant trait of familial central...

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Identifiers

PMID: 12012274
DOI: 10.1055/s-2002-29091

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.

Related research

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Identification of a novel mutation in the arginine vasopressin-neurophysin II gene in familial central diabetes insipidus.PMID 12012274Read ↗

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 single base substitution in the coding region for neurophysin II associated with familial central 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 ↗

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

Forty-One Individuals With Mutations in the AVP-NPII Gene Associated With 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 ↗

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

Familial neurohypophyseal diabetes insipidus: clinical, genetic and functional studies of novel mutations in the arginine vasopressin gene.Semantic proximity Read ↗

Mutation of Glu78 of the AVP-NPII gene impairs neurophysin as a carrier protein for arginine vasopressin in a family with neurohypophyseal diabetes insipidus.Semantic proximity Read ↗

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