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Functional analysis of selected ABCA4 and CNGB3 variants identified in retinal degeneration patients

URN to cite this document:
urn:nbn:de:bvb:355-epub-407676
Loewen-Horsch, Jennifer
Date of publication of this fulltext: 07 Oct 2019 09:07


Abstract (English)

This study conducted in vitro analyses to investigate the splicing effects of twenty ABCA4 variants and one CNGB3, which had been predicted in silico to cause aberrant mRNA splicing. To circumvent the problem of tissue availability, the method of in vitro exon trapping was employed, based on the work of Cepko et al., 55 which capitalizes on the highly conserved sequences flanking splice sites, ...

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Translation of the abstract (German)

Diese Studie führte in vitro Analysen durch, um das Spleißverhalten von zwanzig ABCA4Varianten und einer CNGB3-Variante zu untersuchen, bei denen in silico Vorhersagen darauf hindeuteten fehlerhaftes MRNA-Spleißen zu erwarten. Um das Problem der Gewebeverfügbarkeit zu umgehen, wurde die sogenannte in-vitro-Exon-Trapping-Methode angewandt, welche sich auf die Arbeit von Cepko et al. 55 bezieht und ...

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