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A) CLCN1 cDNA sequences of c.264G>A carriers compared to normal control. Sequence of a patient homozygous for c.264G>A shows that exon 2 has been skipped totally so that exon 1 is followed by exon 3. Patient heterozygous for c.264G>A has 2 alleles: one normal and one lacking exon 2. (B) The nucleotide alignment of CLCN1 cDNA shows marked conservation for c.264G (in red).
