title: Pitfalls in the detection of heterozygosity by allopurinol in a variant form of ornithine carbamoyltransferase deficiency.
authors.affiliation: Department of Pediatrics and Institute for Molecular Genetics, University of California, USA.
authors.forename: B A
authors.initials: BA
authors.lastname: Barshop
authors.forename: W L
authors.initials: WL
authors.lastname: Nyhan
authors.forename: C
authors.initials: C
authors.lastname: Climent
authors.forename: V
authors.initials: V
authors.lastname: Rubio
mesh_terms: D000493:Allopurinol; D002648:Child; D005188:False Negative Reactions; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D009154:Mutation; D009954:Ornithine Carbamoyltransferase / Q000235:genetics; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D009963:Orotic Acid / Q000652:urine; D014498:Uracil / Q000652:urine
chemical_list: D014498:Uracil; D009963:Orotic Acid; D000493:Allopurinol; D009954:Ornithine Carbamoyltransferase