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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Detalles Bibliográficos
Autores principales: Toh, Zhi Yon Charles, Thandar Aung-Htut, May, Pinniger, Gavin, Adams, Abbie M., Krishnaswarmy, Sudarsan, Wong, Brenda L., Fletcher, Sue, Wilton, Steve D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4706350/
https://www.ncbi.nlm.nih.gov/pubmed/26745801
http://dx.doi.org/10.1371/journal.pone.0145620

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4706350/
https://www.ncbi.nlm.nih.gov/pubmed/26745801
http://dx.doi.org/10.1371/journal.pone.0145620

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