Additional file 2.

Figure S1. Sequencing of genomic DNA from control (A) and patient (B) showing the T > C transition at position +2 of the consensus donor splice site of exon 26. Direct sequencing of the cDNA revealing a 189 bp in-frame deletion, corresponding to aberrant skipping of the whole of exon 26: (C) control and (D) patient.

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Di Blasi et al. BMC Research Notes 2011 4:534   doi:10.1186/1756-0500-4-534