Heterogenous mutations of the structural gene of human ornithine carbamyltransferase as observed in five personal cases.
D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics; D000641:Ammonia / Q000097:blood; D002219:Carbamates / Q000378:metabolism; D005260:Female; D005796:Genes; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007422:Intestines / Q000201:enzymology; D007700:Kinetics; D008099:Liver / Q000201:enzymology; D008297:Male; D009154:Mutation; D009952:Ornithine / Q000378:metabolism; D009954:Ornithine Carbamoyltransferase / Q000378:metabolism*; D012730:Sex Chromosomes
D002219:Carbamates; D000641:Ammonia; D009952:Ornithine; D009954:Ornithine Carbamoyltransferase