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Article

A case of renal hypouricemia caused by urate transporter 1 gene mutations.

Clinical nephrology - 1 May 2006

Inazu T

Abstract excerpt

Hypouricemia is a common disorder in the general population. Herein, renal hypouricemia caused by human urate transporter 1 (hURAT1) gene mutations in a Japanese patient with intellectual disability is reported. She had compound heterozygous mutations in this gene (W258X and IVS2+1G>A), neverthel...

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Identifiers

PMID: 16724660
DOI: 10.5414/cnp65370

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16724660-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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