Fig. 2From: NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report studyDirect sequencing of ASL (NCBI Reference Sequence: NM_001024943.1) in the patient 2.1 (other family members’ data not shown). a The heterozygous mutation c.434A>G (p.(D145G)) in exon 5 (arrow). b The heterozygous mutation c.1366C>T (p.(R456W)) in exon 16 (arrow)Back to article page