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Article

A missense mutation in the hypoxanthine phosphoribosyltransferase gene in a pediatric patient with hyperuricemia.

Acta paediatrica (Oslo, Norway : 1992) - 1 Sept 1993

Marcus S, Sahlén S, Lambert B, Wettrell G

Abstract excerpt

We have identified a mutation in the gene coding for the enzyme hypoxanthine phosphoribosyltransferase in a pediatric patient with hyperuricemia and nephrolithiasis. The mutation is a nucleotide substitution causing an amino acid substitution in the hypoxanthine phosphoribosyltransferase protein. In this patient, fibroblasts but not lymphocytes showed resistance to 6-thioguanine, and reduced enzyme activity was...

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Identifiers

PMID: 8241673
DOI: 10.1111/j.1651-2227.1993.tb12553.x

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

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