Pitfalls in the detection of heterozygosity by allopurinol in a variant form of ornithine carbamoyltransferase deficiency.
Barshop
B A
BA
Department of Pediatrics and Institute for Molecular Genetics, University of California, USA.
Nyhan
W L
WL
Climent
C
C
Rubio
V
V
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
D014498:Uracil; D009963:Orotic Acid; D000493:Allopurinol; D009954:Ornithine Carbamoyltransferase