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Identification of Splicing Defects Caused by Mutations in the Dysferlin Gene

Archive ouverte | Kergourlay, Virginie | CCSD

International audience. Missense, iso-semantic, and intronic mutations are challenging for interpretation, in particular for their impact in mRNA. Various tools such as the Human Splicing Finder (HSF) system could b...

Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells

Archive ouverte | Barthelemy, Florian | CCSD

International audience. Dysferlinopathies are a family of disabling muscular dystrophies with LGMD2B and Miyoshi myopathy as the main phenotypes. They are associated with molecular defects in DYSF, which encodes dys...

Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation

Archive ouverte | Dominov, Janice | CCSD

International audience. ObjectiveDysferlin is a large transmembrane protein that functions in critical processes of membrane repair and vesicle fusion. Dysferlin-deficiency due to mutations in the dysferlin gene lea...

Chargement des enrichissements...