Detection of females heterozygous for the Lesch-Nyhan mutation by 8-azaguanine-resistant growth of cultured fibroblasts.

Athetosis/genetics Autoradiography Azaguanine/antagonists & inhibitors Biopsy Compulsive Behavior Culture Techniques Female Fibroblasts/growth & development Genetics, Medical Humans Huntington Disease/diagnosis Hypoxanthines/pharmacology Intellectual Disability/diagnosis Lesch-Nyhan Syndrome/diagnosis Mutation Purine-Pyrimidine Metabolism, Inborn Errors/diagnosis Purines/metabolism Self Mutilation/diagnosis Skin Uric Acid/blood

Hypoxanthines Purines Uric Acid Azaguanine