Skip to Main content Skip to Navigation
Book sections

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.
Complete list of metadatas

Cited literature [15 references]  Display  Hide  Download

https://hal-amu.archives-ouvertes.fr/hal-02000829
Contributor : Marc Bartoli <>
Submitted on : Thursday, January 31, 2019 - 4:13:00 PM
Last modification on : Tuesday, November 5, 2019 - 10:11:26 AM
Long-term archiving on: : Wednesday, May 1, 2019 - 1:17:31 PM

File

Dysferlin Exon 32 Skipping in ...
Files produced by the author(s)

Identifiers

Collections

Citation

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⟩

Share

Metrics

Record views

214

Files downloads

319