Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures.

doi:10.1007/BF00276334

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Article

Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures.

Human genetics - 1 Jun 1990

Skopek T R, Recio L, Simpson D, Dallaire L, Melancon S B, Ogier H, O'Neill J P, Falta M T, Nicklas J A, Albertini R J

Abstract excerpt

The frequency of hprt mutants in peripheral blood T-lymphocytes of two putative Lesch-Nyhan individuals and their parents was determined by a cell cloning assay to quantify the frequency of thioguanine-resistant mutants. The results confirmed the Lesch-Nyhan diagnosis and demonstrated that the mo...

Topics

Adult
Base Sequence
Cells, Cultured
Child
DNA
Female
Gene Frequency
Heterozygote
Humans
Hypoxanthine Phosphoribosyltransferase
Karyotyping
Lesch-Nyhan Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Molecular Sequence Data

Mutation

Polymerase Chain Reaction

RNA, Messenger

T-Lymphocytes

Source

Open in PubMed

Identifiers

PMID: 2358296
DOI: 10.1007/BF00276334

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-2358296-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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