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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Fletcher, Sue, Meloni, Penny L, Johnsen, Russell D, Wong, Brenda L, Muntoni, Francesco, Wilton, Stephen D
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Blackwell Publishing Ltd 2013
Gaiak:
Sarrera elektronikoa: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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