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

Splicing-affecting mutations can disrupt gene function by altering the transcript assembly. To ascertain splicing dysregulation principles, we modified a minigene assay for the parallel high-throughput evaluation of different mutations by next-generation sequencing. In our model system, all exonic a...

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Detalhes bibliográficos
Publicado no:RNA Biol
Main Authors: Souček, Přemysl, Réblová, Kamila, Kramárek, Michal, Radová, Lenka, Grymová, Tereza, Hujová, Pavla, Kováčová, Tatiana, Lexa, Matej, Grodecká, Lucie, Freiberger, Tomáš
Formato: Artigo
Idioma:Inglês
Publicado em: Taylor & Francis 2019
Assuntos:
Research Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6779402/
https://ncbi.nlm.nih.gov/pubmed/31213135
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/15476286.2019.1630796
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