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cDNA analysis in patient 12. Upper panel: wild-type (wt) sequence of a control sample. The red dashed line corresponds to the junction between exons 21 and 22. Lower panel: sequencing of patient 12 cDNA showed the wt and the deleted alleles. The deletion resulted in the use of a downstream cryptic acceptor splice site (black rectangle) leading to an in-frame skipping of the first 20 amino acids encoded by exon 22 (p.Arg1161_Phe1180del20). E21: exon 21; E22: exon 22.
