title: Family studies of the Lesch-Nyhan syndrome: the use of a restriction fragment length polymorphism (RFLP) closely linked to the disease gene for carrier state and prenatal diagnosis.
mesh_terms: D000483:Alleles; D002478:Cells, Cultured; D004247:DNA / Q000032:analysis; D004262:DNA Restriction Enzymes; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005796:Genes; D008040:Genetic Linkage; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics*; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009693:Nucleic Acid Hybridization; D010375:Pedigree; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012867:Skin / Q000201:enzymology
chemical_list: D004247:DNA; D007041:Hypoxanthine Phosphoribosyltransferase; D004262:DNA Restriction Enzymes