Novel hydroxymethylbilane synthase gene mutation identified and confirmed in a woman with acute intermittent porphyria: A case report

Figure 3 Validation of splicing alteration. A: Sequencing analysis minigenes: Top, mutant minigene containing c.648_651+1delCCAGG; bottom, wild-type minigene; B: Reverse Transcription Polymerase Chain Reaction of wild-type or mutant minigenes on agarose gel electrophoresis; C: Minigene construction and splicing pattern; D: Minigene splicing assay: Top, wild-type minigene; bottom, mutant minigene with retention of intron 10.