Antisense suppression of donor splice site mutations in the dystrophin gene transcript

We describe two donor splice site mutations, affecting dystrophin exons 16 and 45 that led to Duchenne muscular dystrophy (DMD), through catastrophic inactivation of the mRNA. These gene lesions unexpectedly resulted in the retention of the downstream introns, thereby increasing the length of the dy...

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Bibliographic Details
Main Authors: Fletcher, Sue, Meloni, Penny L, Johnsen, Russell D, Wong, Brenda L, Muntoni, Francesco, Wilton, Stephen D
Format: Artigo
Language:Inglês
Published: Blackwell Publishing Ltd 2013
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Original Articles
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3865583/
https://ncbi.nlm.nih.gov/pubmed/24498612
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.19
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