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(A) RNA analysis of the c.991-60_1095del variant. (A) Agarose gel electrophoresis of the RT-PCR products from a control (lane 2) and the proband IV:4 (line 3). Lane 1: molecular weight markers, lane 4: control PCR reaction without template. A schematic representation of the spliced products is included. The position of the primers used for the amplification is shown by arrows. (B) Sanger sequencing electropherograms of the RT-PCR products for the control and the patient.
