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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Detalles Bibliográficos
Main Authors: Fujimori, S, Davidson, B L, Kelley, W N, Palella, T D
Formato: Artigo
Idioma:Inglês
Publicado: 1989
Assuntos:
Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC303636/
https://ncbi.nlm.nih.gov/pubmed/2910902
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