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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Détails bibliographiques
Publié dans:PLoS One
Auteurs principaux: Toh, Zhi Yon Charles, Thandar Aung-Htut, May, Pinniger, Gavin, Adams, Abbie M., Krishnaswarmy, Sudarsan, Wong, Brenda L., Fletcher, Sue, Wilton, Steve D.
Format: Artigo
Langue:Inglês
Publié: Public Library of Science 2016
Sujets:
Research Article
Accès en ligne: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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