Fig. 3 | Genetics in Medicine

Fig. 3

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

Fig. 3

Antisense oligonucleotide (AON) rescue in fibroblasts derived from Stargardt disease (STGD1)-affected individuals carrying c.769-784C>T or c.859-506G>C. Fibroblast cells from a control (CON) and a STGD1 individual were transfected with three AONs and a SON. To detect the pseudoexon, cells were subjected to cycloheximide (+CHX) treatment. Only the nontransfected cells were not subjected to CHX treatment (-CHX). The MQ lane contains the negative control of the PCR reaction. Actin (ACTB) was used as a loading control.

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