Dysferlin Exon 32 Skipping in Patient Cells

Autor: Florian, Barthélémy, Sébastien, Courrier, Nicolas, Lévy, Martin, Krahn, Marc, Bartoli
Rok vydání: 2018
Předmět:
Zdroj: Methods in molecular biology (Clifton, N.J.). 1828
ISSN: 1940-6029
Popis: Dysferlinopathies are rare genetic diseases affecting muscles due to mutations in DYSF. Exon 32 of DYSF has been shown to be dispensable for dysferlin functions. Here we present a method to visualize the skipping of exon 32 at the RNA and protein levels using an antisense oligonucleotide on cells derived from a dysferlinopathy-affected patient.
Databáze: OpenAIRE