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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 mother has an elevated mutant frequency consistent with being heterozygous for an hprt mutation. Mass cultures of...

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Identifiers

PMID: 2358296
DOI: 10.1007/BF00276334

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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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Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures.PMID 2358296Read ↗

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