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Article

Dominant-negative diabetes insipidus and other endocrinopathies.

The Journal of clinical investigation - 1 Dec 2003

Phillips John A

Abstract excerpt

Familial neurohypophyseal diabetes insipidus (FNDI) in humans is an autosomal dominant disorder caused by a variety of mutations in the arginine vasopressin (AVP) precursor. A new report demonstrates how heterozygosity for an AVP mutation causes FNDI (see the related article beginning on page 1697). Using an AVP knock-in mutation in mice, the study shows that FNDI is caused by retention of AVP precursors and...

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Source

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Identifiers

PMID: 14660740
DOI: 10.1172/JCI20441
PMCID: PMC281655

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.

Related research

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