Assessing the residual CFTR gene expression in human nasal epithelium cells bearing CFTR splicing mutations causing cystic fibrosis

The major purpose of the present study was to quantify correctly spliced CFTR transcripts in human nasal epithelial cells from cystic fibrosis (CF) patients carrying the splicing mutations c.580-1G>T (712-1G>T) and c.2657+5G>A (2789+5G>A) and to assess the applicability of this model in...

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Main Authors: Masvidal, Laia, Igreja, Susana, Ramos, Maria D, Alvarez, Antoni, de Gracia, Javier, Ramalho, Anabela, Amaral, Margarida D, Larriba, Sara, Casals, Teresa
Format: Artigo
Language:Inglês
Published: Nature Publishing Group 2014
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4023213/
https://ncbi.nlm.nih.gov/pubmed/24129438
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.238
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