Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome - Fujimori, S; Davidson, B L; Kelley, W N; Palella, T D (The Journal of clinical investigation, 1989)
Keywords: DNA - analysis; Humans; Hypoxanthine Phosphoribosyltransferase - genetics; Lesch-Nyhan Syndrome - enzymology; Lesch-Nyhan Syndrome - genetics; Mutation; RNA, Messenger - analysis