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Article

Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBRISBANE).

Journal of inherited metabolic disease - 1 Jan 1990

Gordon R B, Sculley D G, Dawson P A, Beacham I R, Emmerson B T

Abstract excerpt

The change in genomic DNA responsible for HPRT deficiency has been determined in a patient with urate overproduction and gout. In erythrocyte cell lysates, this patient had approximately 10% of normal HPRT enzyme activity and 26% of immunoidentical HPRT protein. Cultured lymphoblasts derived from this patient were used to extract mRNA. This was reverse transcribed to cDNA, which was then amplified using the...

Topics

Adult
Amino Acid Sequence
Base Sequence
Cloning, Molecular
DNA
Deoxyribonuclease BamHI
Gene Amplification
Humans
Hypoxanthine Phosphoribosyltransferase
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Oligonucleotide Probes

Polymorphism, Genetic

Restriction Mapping

Source

Identifiers

PMID: 2246854
DOI: 10.1007/BF01799570

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2246854-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBRISBANE).PMID 2246854Read ↗

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