title: Family studies of a Lesch-Nyhan patient from an isolated Canadian community.
mesh_terms: D002478:Cells, Cultured; D002675:Child, Preschool; D004912:Erythrocytes / Q000201:enzymology; D005347:Fibroblasts / Q000201:enzymology; D006579:Heterozygote; D006801:Humans; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D010430:Pentosyltransferases / Q000032:analysis; D011792:Quebec; D012730:Sex Chromosomes
chemical_list: D010430:Pentosyltransferases