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Molecular analysis of proband LB and her parents. A: Sequence analysis of GJA8 cDNA indicates a T/G heterozygosity at position 741 (red arrow) for the proband (II.1). B: The T→G exchange at position 741 leads to an amino acid exchange from Ile to Met at position 247 (I247M) and creates an SfaN/LweI restriction site in the mutated sequence. C: Restriction digest using LweI in the members of the family demonstrates its presence also in the unaffected mother (red arrows).
