Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation

OBJECTIVE: Dysferlin 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 leads to muscular dystrophy (Miyoshi myopathy (MM), limb girdle muscular dystrophy type 2B (LGMD2B), distal my...

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Detalles Bibliográficos
Autores principales: Dominov, Janice A., Uyan, Özgün, McKenna‐Yasek, Diane, Nallamilli, Babi Ramesh Reddy, Kergourlay, Virginie, Bartoli, Marc, Levy, Nicolas, Hudson, Judith, Evangelista, Teresinha, Lochmuller, Hanns, Krahn, Martin, Rufibach, Laura, Hegde, Madhuri, Brown, Robert H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6469257/
https://www.ncbi.nlm.nih.gov/pubmed/31019989
http://dx.doi.org/10.1002/acn3.738

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6469257/
https://www.ncbi.nlm.nih.gov/pubmed/31019989
http://dx.doi.org/10.1002/acn3.738

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