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Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X

Nonsense mutations that occur more than 50 bases upstream of terminal spliced junctions are generally thought to lead to degradation of the corresponding transcripts by the process of nonsense‐mediated mRNA decay. It has also been proposed that some nonsense mutations may affect splicing by the proc...

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Bibliografische gegevens
Hoofdauteurs: Aznarez, Isabel, Zielenski, Julian, Rommens, Johanna M, Blencowe, Benjamin J, Tsui, Lap‐Chee
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BMJ Group 2007
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2597982/
https://ncbi.nlm.nih.gov/pubmed/17475917
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.045880
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