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Article

Novel mutations in the human HPRT gene.

Nucleosides, nucleotides & nucleic acids - 1 Jun 2011

Nguyen Khue Vu, Naviaux Robert K, Paik Kacie K, Nyhan William L

Abstract excerpt

Inherited mutation of a purine salvage enzyme, hypoxanthine guanine phosphoribosyltransferase (HPRT), gives rise to Lesch-Nyhan Syndrome (LNS) or HPRT-related gout. Here, we report five novel independent mutations in the coding region of the HPRT gene from five unrelated male patients manifesting different clinical phenotypes associated with LNS: exon 2: c.133A > G, p.45R > G; c.35A > C, p.12D > A; c.88delG; exon...

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Identifiers

PMID: 21780909
DOI: 10.1080/15257770.2011.588187

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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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