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Article

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

Molecular genetics and metabolism - 1 Jan 2001

DiMeglio L A, Gagliardi P C, Browning J E, Quigley C A, Repaske D R

Abstract excerpt

Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) is an inherited disorder in which progressive degeneration of magnocellular neurons of the hypothalamus impairs production of arginine vasopressin (AVP). ADNDI is caused by mutations in the arginine vasopressin-neurophysin II (AVP-NPII) gene. These mutations are hypothesized to trigger neurodegeneration via disruption of preproAVP-NPII processing....

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Source

Identifiers

PMID: 11161827
DOI: 10.1006/mgme.2000.3117

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 missense mutation encoding cys(67) --> gly in neurophysin ii is associated with early onset autosomal dominant neurohypophyseal diabetes insipidus.PMID 11161827Read ↗

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