A novel missense mutation in the exon containing the putative ornithine-binding domain of the OTC enzyme in a female.
Demmer
L A
LA
Kim
J M
JM
de Martinville
B
B
Dowton
S B
SB
D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D000641:Ammonia / Q000097:blood; D001665:Binding Sites; D002675:Child, Preschool; D018388:Codon, Terminator; D015342:DNA Probes; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D009154:Mutation; D009952:Ornithine / Q000378:metabolism; D009954:Ornithine Carbamoyltransferase / Q000235:genetics* / Q000378:metabolism; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D009963:Orotic Acid / Q000652:urine
D018388:Codon, Terminator; D015342:DNA Probes; D009963:Orotic Acid; D000641:Ammonia; D009952:Ornithine; D009954:Ornithine Carbamoyltransferase