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. 2014 Jul 23;23(4):500–506. doi: 10.1038/ejhg.2014.149

Figure 2.

Figure 2

Minigene constructs and transcript analysis of transfected cells. (a) schematic representation depicting the minigene constructs. The PCR fragment comprising the last portion of intron 7, exon 8, intron 8, exon 9 and the first portion of intron 9 was cloned in the pSPL3 vector: pSPL3.wt minigene presents the genomic wild-type fragment; pSPL3.mut minigene presents the genomic mutant fragment (c.820+13A>G mutation); (b) transfection of HeLa cells with the wild-type and mutant constructs; RT-PCR pattern and sequence analysis of the corresponding fragments are depicted in the schemes; (c) transfection of COS-7 cells with the wild-type and mutant constructs; RT-PCR pattern and sequence analysis of the corresponding fragments are depicted in the schemes.