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Article

Immunological profile in a family with nephrogenic diabetes insipidus with a novel 11 kb deletion in AVPR2 and ARHGAP4 genes.

BMC medical genetics - 20 May 2008

Fujimoto Masaya, Imai Kohsuke, Hirata Kenji, Kashiwagi Reiichi, Morinishi Yoichi, Kitazawa Katsuhiko, Sasaki Sei, Arinami Tadao, Nonoyama Shigeaki, Noguchi Emiko

Abstract excerpt

BACKGROUND: Congenital nephrogenic diabetes insipidus (NDI) is characterised by an inability to concentrate urine despite normal or elevated plasma levels of the antidiuretic hormone arginine vasopressin. We report a Japanese extended family with NDI caused by an 11.2-kb deletion that includes th...

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Topics

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Share to CD4 Lymphocyte Count
Share to Diabetes Insipidus, Nephrogenic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to GTPase-Activating Proteins

Share to Immunoglobulin G

Share to Oligonucleotide Array Sequence Analysis

Share to Physical Chromosome Mapping

Share to Receptors, Vasopressin

Share to Sequence Deletion

Source

Open in PubMed Open full text

Identifiers

PMID: 18489790
DOI: 10.1186/1471-2350-9-42
PMCID: PMC2413213

Genes

ARHGAP4
AVPR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18489790-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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