A Novel Homozygous Mutation in the EC1/EC2 Interaction Domain of the Gap Junction Complex Connexon 26 Leads to Profound Hearing Impairment
Figure 3
Electrogram of the mutation; (a) homozygote (c.506G>A, (TGC>TAC), Cys169Tyr) in patients (II-3, II-6); (b) heterozygote in the parents (I-2, I-4, and I-5); (c) control.