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

Figure 1

Sequence analysis of the index patient showing the novel mutation c.3235C>T, p.Gln107 in exon 24 (a) and the known mutation c.1589C>G, p.Ser53 in exon 12 (b).

(a)

(b)