High-throughput analysis revealed mutations’ diverging effects on SMN1 exon 7 splicing

Přemysl Souček,Kamila Réblová,Michal Kramarek,Lenka Radová,Tereza Grymová,Pavla Hujová,Tatiana Kováčová,Matej Lexa,Lucie Grodecká,Tomáš Freiberger

High-throughput analysis revealed mutations’ diverging effects on SMN1 exon 7 splicing

2019

Přemysl Souček
Kamila Réblová
Michal Kramarek
Lenka Radová
Tereza Grymová
Pavla Hujová
Tatiana Kováčová
Matej Lexa
Lucie Grodecká
Tomáš Freiberger

ABSTRACTSplicing-affecting mutations can disrupt gene function by altering the transcript assembly. To ascertain splicing dysregulation principles, we modified a minigene assay for the parallel hig...

Keywords:

RNA splicing
Genetics
Biology
Exon
High throughput analysis
SMN1
Minigene
Gene
Cryptic Splice Sites

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