Fig. 4
From: A novel intron mutation in FBN-1 gene identified in a pregnant woman with Marfan syndrome
Results of the mini-gene splicing assay. a Schematic diagram of mini-gene construction and the c.6497-13 T>A variant related abnormal splicing. The asterisk indicates the location of the c.6497-13 T>A variant. b Gel electrophoresis of RT-PCR products: the band of the mutant was bigger than the wild-type. c Mini-gene product sequencing results: a The wild-type mini-gene (FBN1-wt) formed normal mRNA composed of exon54; b The mutant mini-gene (FBN1-mut) caused a splicing abnormality, resulting in the retention of the 11 bp in intron 53