ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease

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Figure 2.
Figure 2.

Overview of the wild-type midigene splice constructs of ABCA4 and locations of all 47 noncanonical splice site variants. Exons are represented here as black rectangles. Employing bacterial artificial chromosome DNA and Gateway sequence-tagged primers, we amplified 29 genomic fragments and cloned these into the pCI-NEO-RHO Gateway-adapted vector (BA1–BA29). Genomic DNA from control persons (MG30 and MG31) and a patient carrying c.6729+5_6729+19del (MG30) were used to clone wild-type and mutant fragments.

This Article

  1. Published in Advance November 21, 2017, doi: 10.1101/gr.226621.117 Genome Res. 28: 100-110

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