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Article

Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response.

Human molecular genetics - 1 Oct 1997

Canfield M C, Tamarappoo B K, Moses A M, Verkman A S, Holtzman E J

Abstract excerpt

Congenital nephrogenic diabetes insipidus (NDI) is a rare disease caused most often by mutations in the vasopressin V2 receptor (AVPR2). We studied a family which included a female patient with NDI with symptoms dating from infancy. The patient responded to large doses of desmopressin (dDAVP) whi...

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Source

Identifiers

PMID: 9302264
DOI: 10.1093/hmg/6.11.1865

Genes

AQP2
AVPR2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-9302264-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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