Studies on hypoxanthine-guanine phosphoribosyltransferase in fibroblasts from patients with the Lesch-Nyhan syndrome. Evidence for genetic heterogeneity.

Athetosis/enzymology Culture Techniques Drug Stability Fibroblasts/enzymology Genes Guanine Guanine Nucleotides Hot Temperature Humans Hypoxanthines Intellectual Disability/enzymology Lesch-Nyhan Syndrome/enzymology,genetics Mutation Nucleotides Pentosephosphates Purine-Pyrimidine Metabolism, Inborn Errors/enzymology Self Mutilation/enzymology Skin/pathology Transferases/antagonists & inhibitors

Guanine Nucleotides Hypoxanthines Nucleotides Pentosephosphates Guanine Transferases