Fig. 6: Minigene-based splicing analysis of pathogenic variants in PDE6C and NYX.
From: A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort
A Agarose gel electrophoresis of the RT-PCR-based amplification of transcripts from HEK-293FT cells, transfected with plasmids carrying wild-type and patient-derived sequences. n.t. = non-transfected cells; wt = cDNA from cells transfected with plasmids carrying wild-type sequences; mut = cDNA from cells transfected with plasmids carrying either c.633G>A in PDE6C or c.22+5G>T in NYX. B Electropherograms of the PCR products depicted in (A). Exons 3 and 5 of the rhodopsin gene derived from the backbone of plasmid pCI-NEO-RHO (see Methods).
