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. 2022 Aug 25;23(17):9621. doi: 10.3390/ijms23179621

Figure 1.

Figure 1

(a) Amplification products of RBM8A cDNA exons 2 to 6 (F2-II.1.) The control sample (C) shows a normal-sized fragment (~460 bp), as expected for the region encompassing exons 2 to 6. The patient (P) presents a faint, normal-sized fragment and a predominantly shorter fragment (~320 bp), consistent with the absence of exon 5. The residual intermediate-sized fragment reflects heteroduplex formation (verified by Sanger sequencing; data not shown). (b) Partial electropherograms showing the exon 4/exon 6 junction sequence in the patient’s aberrant fragment and the normal exon 4/exon 5 junction sequence in the control. M—size markers: GeneRuler 100 bp Plus DNA ladder (Thermo Fisher Scientific, Waltham, MA, USA).