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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.
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Dates and versions

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

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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⟩
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