A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC) gene causing neonatal onset of OTC deficiency.
D003062:Codon; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009954:Ornithine Carbamoyltransferase / Q000235:genetics*; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D017354:Point Mutation; D016133:Polymerase Chain Reaction
D003062:Codon; D009954:Ornithine Carbamoyltransferase