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Article

Molecular characterization and structure analysis of HPRT in a Chinese patient with Lesch-Nyhan disease.

Nucleosides, nucleotides & nucleic acids - 1 Jan 2013

Jian Wei-Xia, Peng Wen-Hui, Li Hai-Ling, Feng Qi-Wen, Wang Wei-Xing, Su Qing

Abstract excerpt

Lesch-Nyhan disease (LND) is caused by deficiency of hypoxanthine guanine phosphoribosyltransferase (HPRT). The aim of the present study is to characterize the molecular deficiency of a clinical diagnosed Chinese patient with attenuated variant of LND. The coding region and the intron-exon boundaries of HPRT1 gene were sequenced by standard methods, and HPRT activity was assayed by HPLC method. Structure analysis...

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Source

Identifiers

PMID: 24001192
DOI: 10.1080/15257770.2013.774013

Genes

HPRT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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