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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.
Cited literature [15 references]
https://hal-amu.archives-ouvertes.fr/hal-02000829
Contributor : Marc Bartoli Connect in order to contact the contributor
Submitted on : Thursday, January 31, 2019 - 4:13:00 PM
Last modification on : Wednesday, November 3, 2021 - 9:47:46 AM
Long-term archiving on: : Wednesday, May 1, 2019 - 1:17:31 PM
Contributor : Marc Bartoli Connect in order to contact the contributor
Submitted on : Thursday, January 31, 2019 - 4:13:00 PM
Last modification on : Wednesday, November 3, 2021 - 9:47:46 AM
Long-term archiving on: : Wednesday, May 1, 2019 - 1:17:31 PM
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