Fig. 1From: Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?ACAD9 mutation status, gene structure and conservation of affected amino acid residues. Gene structure of ACAD9 with localization of mutations in 70 patients. Blue asterisks indicate splice site mutations. Newly identified mutations are shown in bold. Conservation of amino acid residues affected by missense variantsBack to article page