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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Detalles Bibliográficos
Autores principales: Fletcher, Sue, Meloni, Penny L, Johnsen, Russell D, Wong, Brenda L, Muntoni, Francesco, Wilton, Stephen D
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2013
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865583/
https://www.ncbi.nlm.nih.gov/pubmed/24498612
http://dx.doi.org/10.1002/mgg3.19

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865583/
https://www.ncbi.nlm.nih.gov/pubmed/24498612
http://dx.doi.org/10.1002/mgg3.19

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