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Agarose gel of reverse transcription polymerase chain reaction products from lymphoblast RNA from patient (M33; c.1129+4A>T) and a control. Wild-type splicing was evident in both samples. In addition, two alternate splice products were identified in the patient resulting in exon skipping of exon 11 (green), or exon 11 and 12 (orange) as diagramed. Products were confirmed by Sanger sequencing.
