AGL mutational spectrum in Chinese GSD III patients. Schematic representation of the AGL gene comprising 35 exons. Exons are not drown in scale. The mutations identified in this study are depicted in blue, and known mutations previously reported by the literature (Chinese population) are in black. Mutation marked in red stands for two different nucleotide changes result in same nonsense mutation. Blue boxes stand for exons considered encoding the putative transferase catalytic residues. Green boxes stand for exons considered encoding the putative glucosidase catalytic residues and orange ones stand for exons considered encoding putative glycogen-binding domain.