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Article

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

Clinica chimica acta; international journal of clinical chemistry - 16 Jan 2013

Takagi Shota, Omae Risa, Makanga Juliet O, Kawahara Tetsuya, Inazu Tetsuya

Abstract excerpt

BACKGROUND: Hypouricemia is a disorder that serum urate level is less than 2.0 mg/dl, and relatively common in the Japanese population, where the main genetic cause of hypouricemia is W258X and R90H mutations in human urate trasnsporter 1(SLC22A12). Small scale screening has relied on time-consum...

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Identifiers

PMID: 23148994
DOI: 10.1016/j.cca.2012.10.046

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23148994-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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