Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome.

Complete deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) causes the Lesch-Nyhan syndrome. Previous characterization of a mutant form of HPRT, HPRTYale, from a subject with the Lesch-Nyhan syndrome revealed normal mRNA and protein concentrations, no residual catalytic activity, an...

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Bibliografiske detaljer

Udgivet i:	J Clin Invest
Principais autores:	Fujimori, S, Davidson, B L, Kelley, W N, Palella, T D
Format:	Artigo
Sprog:	Inglês
Udgivet:	American Society for Clinical Investigation 1989
Fag:	Research Article
Online adgang:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC303636/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2910902/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI113846
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