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Reverse transcription (RT)–PCR analysis and Sanger sequencing to determine the effect of the mutation on splicing. A: Agarose gel electrophoresis of RT–PCR products. Note, the patient has a 359-bp band, whereas the father has two bands of 443 bp and 359 bp. B: Parts of the sequencing chromatograms of the 443- and 359-bp bands. Note that exon 5 is skipped in the 359-bp band (mutant allele).
