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Article

Carrier and prenatal diagnosis of Lesch-Nyhan disease due to a defect in HPRT gene expression regulation.

Gene - 15 Dec 2012

Torres Rosa J, Garcia Marta G, Puig Juan G

Abstract excerpt

Lesch-Nyhan disease (LND) is caused by lack of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity. Mutations in HPRT1 gene show variability in type and location within the gene, and in certain patients the HPRT coding sequence is normal and the molecular defect cannot be found. These patients presented a decreased HPRT1 expression of unknown cause. This is the first report of a carrier and prenatal...

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Source

Identifiers

PMID: 23046577
DOI: 10.1016/j.gene.2012.09.121

Genes

HPRT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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