Fig. 4

Results of minigene splicing assay. A Schematic diagram of minigene construction. The asterisk indicates the location of the c.1063-2 A > T mutation. The splicing pattern of wild-type (WT, top) and mutant (MUT, bottom) was showed respectively. B Minigene RT-PCR product sequencing results. The WT minigene formed normal mRNA composed of exon A, exon 8 and exon B. The mutant minigene caused a splicing abnormality, resulting in the 24 bp nucleotides deletion of 5′ end of exon 8 (c.1063–1086 deletion)