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Schematic diagram of the splicing defect found in MCC019. Boxes represent exons, and dark horizontal lines represent introns. a, genomic PCR of MCCB exon 11 in MCC019 showing the homozygous mutation. b, schematic diagram and RT-PCR products of the splicing variants. wt, wild type. c, RT-PCR products after treating the cells with emetine (100 μg/ml) before harvesting the RNA. Emetine is used to inhibit nonsense-mediated mRNA decay (21).
