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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Detaylı Bibliyografya
Asıl Yazarlar: Fletcher, Sue, Meloni, Penny L, Johnsen, Russell D, Wong, Brenda L, Muntoni, Francesco, Wilton, Stephen D
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Blackwell Publishing Ltd 2013
Konular:
Original Articles
Online Erişim: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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