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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Vydáno v:Ann Clin Transl Neurol
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2019
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Research Articles
On-line přístup: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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