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Article

Characterization of two novel missense mutations in the AQP2 gene causing nephrogenic diabetes insipidus.

Nephron. Physiology - 1 Jan 2007

Iolascon Achille, Aglio Veruska, Tamma Grazia, D'Apolito Maria, Addabbo Francesco, Procino Giuseppe, Simonetti Maria Carmela, Montini Giovanni, Gesualdo Loreto, Debler Erik W, Svelto Maria, Valenti Giovanna

Abstract excerpt

Here, we report the aquaporin 2 (AQP2) mutational analysis of a patient with nephrogenic diabetes insipidus heterozygote due to two novel missense mutations. Direct sequencing of DNA in the male patient revealed that he was compound heterozygote for two mutations in the AQP2 gene: a thymine-to-adenine transversion at position 450 (c.450T>A) in exon 2 and a guanine-to-thymine at nucleotide position 643 (c.643G>T)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17192724
DOI: 10.1159/000098136

Genes

AQP2

Variants

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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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