A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa

Figure 2

Diagnostic sequence analysis of the AGL gene (exons 12 and 24) shows compound heterozygosity for c.1589C>G, p.Ser53 and c.3235C>T, p.Gln107 in the index patient, and heterozygosity for either c.1589C>G, p.Ser53 or c.3235C>T, p.Gln107 in his parents and grandparents.