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Article

Disruption of the hypoxanthine-guanine phosphoribosyl-transferase gene caused by a translocation in a patient with Lesch-Nyhan syndrome.

Nucleosides, nucleotides & nucleic acids - 1 Oct 2004

Mizunuma Makiko, Yamada Yasukazu, Yamada Kenichiro, Sonta Shin-Ichi, Wakamatsu Nobuaki, Kaneko Kiyoko, Ogasawara Nobuaki, Fujimori Shin

Abstract excerpt

In this study, we have identified a novel mechanism of mutation involving translocation between the HPRT1 loci and other loci on the X chromosome. In HRT-25's cDNA obtained from a patient with Lesch-Nyhan syndrome, the upstream region of exon 3 was amplified, but the full-length region was not amplified. The use of 3' rapid amplification of cDNA ends polymerase chain reaction (3'RACE-PCR) for HRT-25 revealed part...

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

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Source

Identifiers

PMID: 15571224
DOI: 10.1081/NCN-200027441

Genes

HPRT1

Provenance

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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Disruption of the hypoxanthine-guanine phosphoribosyl-transferase gene caused by a translocation in a patient with Lesch-Nyhan syndrome.PMID 15571224Read ↗

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A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.Semantic proximity Read ↗

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