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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...

Topics

Adult
Arthritis, Gouty
Cells, Cultured
Chronic Disease
DNA
Female
Humans
Hypoxanthine Phosphoribosyltransferase
Kidney Calculi
Lymphocytes
Male
Middle Aged

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Phenotype

Polymerase Chain Reaction

Uric Acid

Source

Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8241673-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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