Child with adenylosuccinate lyase deficiency caused by a novel complex heterozygous mutation in the ADSL gene: A case report

Figure 1 Mutations in the adenylosuccinate lyase genes of the three family members. A and B: The heterozygous mutation c.154-3C>G was present in the patient and his father; C: The wild-type sequence was present in his mother; D and E: The heterozygous mutation c.71C>T was present in the patient and his mother; F: The wild-type sequence was present in his father.