Molecular, Biochemical, and Clinical Characterization of Thirteen Patients with Glycogen Storage Disease 1a in Malaysia

Figure 2

Schematic of nine mutations spanned all exons except exon 3 and 4 were identified in G6PC gene. Mutation c.648 G > T is the most common mutation present in 13 alleles followed with c.248 G > T in four alleles. Novel mutation is labelled with .