Fig. 1From: NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report studyASL genotypes, determined by NGS using a urea cycle disorders chip, are indicated. Pedigree showing autosomal recessive inheritance of argininosuccinic aciduria. Solid symbol, affected; open symbol, unaffected; arrow, proband (P)Back to article page