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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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Contributor : Marc Bartoli Connect in order to contact the contributor
Submitted on : Thursday, January 31, 2019 - 4:13:00 PM
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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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