PRJNA507345
Analysis of splicing affecting mutations in SMN1 exon 7
To evaluate the affect of different mutations in SMN1 exon 7 on RNA splicing, a plasmid minigene library with different variants of SMN1 exon 7 was created by site directed mutagenesis. Splicing pattern of all created minigenes was assessed in HeLa cells. Available mutants cover whole exon and three adjacent intronic nucleotides.