Deletion of Dystrophin In-Frame Exon 5 Leads to a Severe Phenotype: Guidance for Exon Skipping Strategies

Duchenne and Becker muscular dystrophy severity depends upon the nature and location of the DMD gene lesion and generally correlates with the dystrophin open reading frame. However, there are striking exceptions where an in-frame genomic deletion leads to severe pathology or protein-truncating mutat...

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Detaylı Bibliyografya
Yayımlandı:PLoS One
Asıl Yazarlar: Toh, Zhi Yon Charles, Thandar Aung-Htut, May, Pinniger, Gavin, Adams, Abbie M., Krishnaswarmy, Sudarsan, Wong, Brenda L., Fletcher, Sue, Wilton, Steve D.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Public Library of Science 2016
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4706350/
https://ncbi.nlm.nih.gov/pubmed/26745801
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0145620
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