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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Publicado en:Ann Clin Transl Neurol
Main Authors: 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: Artigo
Idioma:Inglês
Publicado: John Wiley and Sons Inc. 2019
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Research Articles
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6469257/
https://ncbi.nlm.nih.gov/pubmed/31019989
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.738
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