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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...
Uloženo v:
| Vydáno v: | Ann Clin Transl Neurol |
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| Hlavní autoři: | , , , , , , , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
John Wiley and Sons Inc.
2019
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| Témata: | |
| 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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