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Article

Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency.

Human molecular genetics - 1 Sept 1992

Sege-Peterson K, Chambers J, Page T, Jones O W, Nyhan W L

Abstract excerpt

The Lesch-Nyhan disease is caused by an almost complete lack of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Partial HPRT-deficiency, associated with less severe phenotype, has also been identified. We have characterized mutations occurring in HPRT cDNA isolated from patients with HPRT-deficiency with an emphasis on examining the more unusual partial variants of HPRT-deficiency. HPRT cDNA was...

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PMID: 1301916
DOI: 10.1093/hmg/1.6.427

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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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