Fig. 3

Minigene assay for the GPI c.633 + 3 A > G variant and schematic diagram of the splicing pattern. (A) Sanger sequencing chromatograms of the reverse transcription-polymerase chain reaction (RT-PCR) products of the c.633 + 3 A > G variant. (B) Schematic diagram of the wild-type (WT) and mutated minigene fragments. The ttranscribed mRNA sequence of the WT plasmid was consistent, including complete exons 5, exon 6 and exon 7. The three transcripts: r.546_633del, r.633 + 1_633 + 2insGT and WT sequences were transcribed by the minigene plasmid. (C) Agarose gel electrophoresis of the RT-PCR products of the WT and mutated minigenes of the c.633 + 3 A > G variant. The original picture is in Supplementary Material 3