Dysferlin Exon 32 Skipping in Patient Cells - Aix-Marseille Université Access content directly
Book Sections Year : 2018

Dysferlin Exon 32 Skipping in Patient Cells

Abstract

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.
Fichier principal
Vignette du fichier
Dysferlin Exon 32 Skipping in Patient Cells.pdf (233.84 Ko) Télécharger le fichier
Origin : Files produced by the author(s)
Loading...

Dates and versions

hal-02000829 , version 1 (31-01-2019)

Identifiers

Cite

Florian Barthelemy, Sebastien Courrier, Nicolas Lévy, Martin Krahn, Marc Bartoli. Dysferlin Exon 32 Skipping in Patient Cells. Exon Skipping and Inclusion Therapies, 1828, pp.489-496, 2018, ⟨10.1007/978-1-4939-8651-4_31⟩. ⟨hal-02000829⟩
142 View
246 Download

Altmetric

Share

Gmail Facebook X LinkedIn More