Fig. 1 | Genetics in Medicine

Fig. 1

From: Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

Fig. 1

Generation and assessment of splicing defects using midigenes. a Schematic representation of the five wild-type midigenes used that were cloned between exons 3 and 5 of Rhodopsin in pCI-Neo-RHO. Positions of the variants present in six mutant midigenes are indicated. b Assessment of the splicing defects upon midigene transfection in HEK293T cells. Five pseudoexon (PE) inclusions and one exon skipping event were detected in the mutant (MUT) constructs compared to the wild-type (WT). MQ stands for the negative control of the polymerase chain reaction (PCR). Rhodopsin (RHO) amplification was used as a transfection and loading control.

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