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Article

Real-time PCR and linkage studies to identify carriers presenting HPRT deleted gene.

Molecular medicine (Cambridge, Mass.) - 1 Jan 2000

Lapucci Cristina, Montin Diego Pomarè, Pandolfo Massimo, Bertelli Matteo

Abstract excerpt

Lesch-Nyhan syndrome (LNS) is an X-linked genetic disorder resulting in hyperuricemia, choreoathetosis, mental retardation, and self-injurious behavior. It is caused by loss of activity of the ubiquitous enzyme hypoxanthine-guanine-phosphoribosyltransferase (HPRT). The biochemical analysis of residual HPRT activity in patients' red blood cells is the first step in LNS diagnosis, and it precedes molecular study to...

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Identifiers

PMID: 17225873
DOI: 10.2119/2005-00046.Lapucci
PMCID: PMC1770009

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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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