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

<p>Identification of the<i> ASL</i> mutations in the patient with ASLD and his parents. (a) Pedigree of the family with ASLD. Males are represented by squares, females are represented by circles, and affected members are indicated by filled symbols. (b) Schematic diagram of the full-length ASL protein. The p.Lys69Arg mutation is located in exon 3, whereas p.Arg213Ter is in exon 9. (c) Both the c.206A&gt;G (p.Lys69Arg) and c.637C&gt;T (p.Arg213Ter) mutations in<i> ASL</i> were confirmed in the patient and his parents by Sanger sequencing. (d) Lys 69 is evolutionarily conserved.</p>

BioMed Research International

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Figure 1

Figure 1: Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in<i> ASL</i> in a Chinese Han Patient with Argininosuccinate Lyase Deficiency 

Figure 1 | Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate Lyase Deficiency 