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Article

Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects.

Genomics - 1 Jun 1991

Tarlé S A, Davidson B L, Wu V C, Zidar F J, Seegmiller J E, Kelley W N, Palella T D

Abstract excerpt

Hypoxanthine--guanine phosphoribosyltransferase (HPRT) is a purine salvage enzyme that catalyzes the conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate. Previous studies of mutant HPRT proteins analyzed at the molecular level have shown a significant heterogeneity. This investigation further verifies this heterogeneity and identifies insertions, deletions, and point...

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Identifiers

PMID: 2071157
DOI: 10.1016/0888-7543(91)90341-b

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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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Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects.PMID 2071157Read ↗

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Genetic analysis of the HPRT mutation of Lesch-Nyhan syndrome in a Chinese family.Semantic proximity Read ↗

Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Italian Lesch-Nyhan patients: identification of nine novel mutations.Semantic proximity Read ↗

Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein.Semantic proximity Read ↗

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