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Article

Genetic analysis of the HPRT mutation of Lesch-Nyhan syndrome in a Chinese family.

Zhonghua yi xue za zhi = Chinese medical journal; Free China ed - 1 Dec 1995

Lee W J, Lee H M, Chi C S, Yang M T, Lin H Y, Lin W H

Abstract excerpt

BACKGROUND: The Lesch-Nyhan syndrome is an X-linked recessive inherited disease caused by a complete deficiency of hypoxanthine guanine phosphoribosyl-transferase (HPRT) activity. Many different mutations throughout the HPRT coding region of Lesch-Nyhan patients have been described, including single base substitutions, partial or entire gene deletions, gene insertions or endoduplication of exons. However, study...

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PMID: 8851475

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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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