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Restoration of the cystic fibrosis transmembrane conductance regulator function by splicing modulation

A significant fraction of disease-causing mutations affects pre-mRNA splicing. These mutations can generate both aberrant and correct transcripts, the level of which varies among different patients. An inverse correlation was found between this level and disease severity, suggesting a role for splic...

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Bibliografiska uppgifter
Huvudupphovsmän: Nissim-Rafinia, Malka, Aviram, Micha, Randell, Scott H, Shushi, Liat, Ozeri, Efrat, Chiba-Falek, Ornit, Eidelman, Ofer, Pollard, Harvey B, Yankaskas, James R, Kerem, Batsheva
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2004
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Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC1299168/
https://ncbi.nlm.nih.gov/pubmed/15472711
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/sj.embor.7400273
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