Fig. 3From: Clinical and genetic analysis of a case of late onset carbamoyl phosphate synthase I deficiency caused by CPS1 mutation and literature reviewPathogenicity was predicted using Mutation Taster (A) and two mutations in the patient and her family were confirmed by Sanger sequencing (B), i.e. c.4080_c.4091 delAGGCATCCTGAT heterozygous mutation carried by the mother and c.1145 C > T heterozygous mutation carried by the fatherBack to article page