Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate Lyase Deficiency

Figure 3

Effects of the ASL mutations on enzymatic activity. The enzyme activities of the ASL mutants in (co)transfected 293T cell extracts are significantly reduced compared to the wild-type-transfected cells. < 0.001 and < 0.05 versus wild type; < 0.001 and < 0.05 versus empty vector.