Deletion of Dystrophin In-Frame Exon 5 Leads to a Severe Phenotype: Guidance for Exon Skipping Strat...
Deletion of Dystrophin In-Frame Exon 5 Leads to a Severe Phenotype: Guidance for Exon Skipping Strategies
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United States: Public Library of Science
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Language
English
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United States: Public Library of Science
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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 mutations (nonsense or frame-shifting indels) manifest...
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Deletion of Dystrophin In-Frame Exon 5 Leads to a Severe Phenotype: Guidance for Exon Skipping Strategies
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TN_cdi_plos_journals_1755065273
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1755065273
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ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0145620
