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Genomic DNA analysis of SCNN1A in the proband. Analysis shows a missense mutation in exon 2 (c.416G>A [p.Arg139Lys], left panel) and a mutation in exon 8 (c.1360 + 1G>T, right panel), both of which are predicted to destroy splicing resulting in exon skipping. Mutated nucleotide is highlighted and its position is indicated at the bottom of the tracing which is shown in duplicate.
