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Article

Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families

1 Jun 1990

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Identifiers

PMID: 2347587
DOI: 10.1016/0888-7543(90)90545-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan familiesPMID 2347587Read ↗

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Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency.Semantic proximity Read ↗

Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Italian Lesch-Nyhan patients: identification of nine novel mutations.Semantic proximity Read ↗

Lesch-Nyhan disease in two families from Chiloé Island with mutations in the HPRT1 gene.Semantic proximity Read ↗

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Mutations in the hypoxanthine-guanine phosphoribosyltransferase gene in Spanish HPRT deficient families.Semantic proximity Read ↗

HPRT deficiency: identification of twenty-four novel variants including an unusual deep intronic mutation.Semantic proximity Read ↗

The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; report of two novel mutations.Semantic proximity Read ↗

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