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

[Genetic analysis of idiopathic renal hypouricemia: a case report and estimation of allelic frequency of the mutation].

Rinsho byori. The Japanese journal of clinical pathology - 1 Jun 2006

Mitani Noriaki, Niwa Yoshimasa, Yamazaki Masaharu, Okamoto Yasuyuki

Abstract excerpt

Idiopathic renal hypouricemia is a hereditary disease characterized by abnormally increased renal excretion of urate. This disorder is primarily caused by a mutation of the SLC22A12 gene encoding human urate transporter 1 (URAT1). We recently encountered a case of severe hypouricemia (urate level...

Read the complete abstract on PubMed

Topics

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

Share to Acute Kidney Injury
Share to Alleles
Share to Carrier Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Organic Anion Transporters

Share to Organic Cation Transport Proteins

Share to Polymerase Chain Reaction

Share to Polymorphism, Restriction Fragment Length

Share to Uric Acid

Source

Identifiers

PMID: 16872008

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16872008-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Genetic analysis of idiopathic renal hypouricemia: a case report and estimation of allelic frequency of the mutation].PMID 16872008Read ↗

Mutational analysis of idiopathic renal hypouricemia in Korea.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 ↗

A case report of Hereditary Renal HypouricemiaSemantic proximity Read ↗

A novel mutation in a patient with familial renal hypouricemia type 2.Semantic proximity Read ↗

A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese.Semantic proximity Read ↗

Genetic epidemiological analysis of hypouricaemia from 4993 Japanese on non-functional variants of URAT1/SLC22A12 gene.Semantic proximity Read ↗

A case of acute renal failure after exercise with renal hypouricemia demonstrated compound heterozygous mutations of uric acid transporter 1.Semantic proximity Read ↗

Genotype and Phenotype of Renal Hypouricemia: A Single-Center Study from China.Semantic proximity Read ↗

Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review.Semantic proximity Read ↗

A novel compound heterozygous mutation in the SLC22A12 (URAT1) gene in a Japanese patient associated with renal hypouricemia.Semantic proximity Read ↗

Identification of a hypouricemia patient with SLC2A9 R380W, a pathogenic mutation for renal hypouricemia type 2.Semantic proximity Read ↗

Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion.Semantic proximity Read ↗

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