Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency.

doi:10.1093/hmg/1.6.427

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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...

Topics

Amino Acid Sequence
Base Sequence
Cells, Cultured
Cloning, Molecular
DNA
Exons
Fibroblasts
Genetic Variation
Humans
Hypoxanthine Phosphoribosyltransferase
Lesch-Nyhan Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Lymphocyte Activation

Lymphocytes

Molecular Sequence Data

Mutation

Oligodeoxyribonucleotides

Phenotype

Point Mutation

Source

Open in PubMed

Identifiers

PMID: 1301916
DOI: 10.1093/hmg/1.6.427

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1301916-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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