Novel human pathological mutations. Gene symbol: CPS1. Disease: carbamoyl phosphate synthetase I deficiency.
Khayat
Morad
M
Werstern Galilee Hospital-Naharia, Institute of Human Genetics, Israel. morad.khayat@naharia.health.gov.il
D019943:Amino Acid Substitution; D002222:Carbamoyl-Phosphate Synthase (Ammonia) / Q000172:deficiency* / Q000235:genetics*; D020165:Carbamoyl-Phosphate Synthase I Deficiency Disease / Q000201:enzymology* / Q000235:genetics*; D003062:Codon / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D020125:Mutation, Missense
D003062:Codon; D002222:Carbamoyl-Phosphate Synthase (Ammonia)