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Article

Hypoxanthine guanine phosphoribosyltransferase (HPRT) mutations in the Asian population.

Nucleosides, nucleotides & nucleic acids - 1 Dec 2011

Yamada Y, Wakamatsu N, Taniguchi A, Kaneko K, Fujimori S

Abstract excerpt

Mutation of hypoxanthine guanine phosphoribosyltransferase (HPRT) gives rise to Lesch-Nyhan syndrome, which is characterized by hyperuricemia, severe motor disability, and self-injurious behavior, or HPRT-related gout (Kelley-Seegmiller syndrome). The marked heterogeneity of HPRT deficiency is well known, with more than 300 mutations at the HPRT gene locus having been reported (deletions, insertions,...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22132982
DOI: 10.1080/15257770.2011.603714

Genes

HPRT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Hypoxanthine guanine phosphoribosyltransferase (HPRT) mutations in the Asian population.PMID 22132982Read ↗

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HPRT deficiency: identification of twenty-four novel variants including an unusual deep intronic mutation.Semantic proximity Read ↗

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