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Figure 1: Electropherogram showing a normal sequence (a) and the homozygous G>A substitution of the CLCN1 gene causing the Gly482Arg amino-acid change in the Clc-1 protein

Figure 1: Electropherogram showing a normal sequence (a) and the homozygous G>A substitution of the <i>CLCN1</i> gene causing the Gly482Arg amino-acid change in the Clc-1 protein