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Article

Normal HPRT coding region in a male with gout due to HPRT deficiency.

Molecular genetics and metabolism - 1 May 2005

Dawson Paul A, Gordon Ross B, Keough Dianne T, Emmerson Bryan T

Abstract excerpt

A deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT; EC 2.4.2.8) is associated with a spectrum of disease that ranges from gouty arthritis (OMIM 300323) to the more severe Lesch-Nyhan syndrome (OMIM 300322). To date, all cases of HPRT deficiency have shown a mutation within the HPRT cDNA. In the present study of an individual with gout due to HPRT deficiency, we found a normal HPRT...

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Identifiers

PMID: 15862284
DOI: 10.1016/j.ymgme.2005.01.005

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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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