Fig. 3

Minigene splicing study of the c.2106 + 3A > T. After transfection with WT and MT minigene plasmids in the HEK293T cell line, total RNA was extracted and cDNA was synthesized. The target fragment was amplified by RT–PCR. A Agarose gel electrophoresis results of the RT–PCR products; the target fragment was shorter in MT than in WT. B Sanger sequencing of the RT–PCR products; MT caused c.1945_2106del, indicating the loss of the whole exon 14. C Schematic diagram showing the aberrant splicing