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Article

Eighteen novel mutations in patients with Lesch-Nyhan syndrome or partial hypoxanthine phosphoribosyltransferase deficiency.

Journal of inherited metabolic disease - 1 Oct 1999

Willers I, Bolz H, Wehnert M, Gal A

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Identifiers

PMID: 10518289
DOI: 10.1023/a:1005522527689

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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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Eighteen novel mutations in patients with Lesch-Nyhan syndrome or partial hypoxanthine phosphoribosyltransferase deficiency.PMID 10518289Read ↗

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A novel mutation in HPRT1 gene causing variant form of Lesch-Nyhan disease.Semantic proximity Read ↗

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