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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...

Täydet tiedot

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Bibliografiset tiedot
Päätekijät: Fletcher, Sue, Meloni, Penny L, Johnsen, Russell D, Wong, Brenda L, Muntoni, Francesco, Wilton, Stephen D
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Blackwell Publishing Ltd 2013
Aiheet:
Linkit: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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