Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Rapid detection of R90H mutations in the human urate transporter 1 gene.

Annals of clinical biochemistry - 1 Mar 2007

Inazu Tetsuya, Kawahara Tetsuya, Ishikawa Isao

Abstract excerpt

BACKGROUND: Hypouricaemia is a relatively common disorder in the general population. Since the discovery of the human urate transporter 1 (hURAT1) gene, the number of patients diagnosed with renal hypouricaemia caused by hURAT1 gene mutation(s) has increased. A rapid method for detecting such a mutation(s) for diagnostic aid is described herein. METHODS: A rapid method for detecting G269A (R90H) mutations by the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to DNA Mutational Analysis
Share to Kidney Diseases
Share to Organic Anion Transporters

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Organic Cation Transport Proteins

Share to Polymerase Chain Reaction

Share to Polymorphism, Restriction Fragment Length

Share to Reproducibility of Results

Share to Uric Acid

Source

Identifiers

PMID: 17362586
DOI: 10.1258/000456307780118028

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Rapid detection of R90H mutations in the human urate transporter 1 gene.PMID 17362586Read ↗

A case of renal hypouricemia caused by urate transporter 1 gene mutations.Semantic proximity Read ↗

Association of the human urate transporter 1 with reduced renal uric acid excretion and hyperuricemia in a German Caucasian populationSemantic proximity Read ↗

Multiple single nucleotide polymorphisms in the human urate transporter 1 (hURAT1) gene are associated with hyperuricaemia in Han Chinese.Semantic proximity Read ↗

Simple and rapid detection method for the mutations in SLC22A12 that cause hypouricemia by allele-specific real-time polymerase chain reaction.Semantic proximity Read ↗

Diagnostic tests for primary renal hypouricemia.Semantic proximity Read ↗

[Molecular basis of primary renal hyperuricemia : role of the human urate transporter hURAT1].Semantic proximity Read ↗

Mutations in human urate transporter 1 gene in presecretory reabsorption defect type of familial renal hypouricemia.Semantic proximity Read ↗

Analysis of mutations in the urate transporter 1 (URAT1) gene of Japanese patients with hypouricemia in northern Japan and review of the literature.Semantic proximity Read ↗

Prevalence of hypouricaemia and SLC22A12 mutations in healthy Korean subjects.Semantic proximity Read ↗

Purine disorders with hypouricemia.Semantic proximity Read ↗

The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia.Semantic proximity Read ↗

Allele-specific real-time polymerase chain reaction as a tool for urate transporter 1 mutation detection.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.