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Article

Diverse vasopressin V2 receptor functionality underlying partial congenital nephrogenic diabetes insipidus.

American journal of physiology. Renal physiology - 1 Dec 2009

Faerch Mia, Christensen Jane H, Rittig Søren, Johansson Jan-Ove, Gregersen Niels, de Zegher Francis, Corydon Thomas J

Abstract excerpt

X-linked congenital nephrogenic diabetes insipidus (CNDI) is characterized by a defective renal response to the antidiuretic hormone (AVP) due to variations in the arginine vasopressin receptor 2 (AVPR2) gene. In a unique group of patients, the renal insensitivity to the effects of AVP is incomplete resulting in a partial phenotype. To investigate the molecular defects, two previously published variations in the...

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Share to Arginine
Share to Chromosomes, Human, X

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cysteine

Share to Diabetes Insipidus, Nephrogenic

Share to Microscopy, Confocal

Share to Receptors, Vasopressin

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Source

Identifiers

PMID: 19812297
DOI: 10.1152/ajprenal.00331.2009

Genes

AVP
AVPR2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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