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Characterization of the intonic base substitution causing alternative splicing. (A) DNA sequence of intron 7-exon 8 boundaries, where the AG acceptor site is highlighted in the dotted box in both the wild type and the mutant DNA and the premature termination codon is coloured in red. (B) The 7-bp insertion upstream of exon 8 on cDNA from the patient is coloured in grey.
