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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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Masvidal, Laia, Igreja, Susana, Ramos, Maria D, Alvarez, Antoni, de Gracia, Javier, Ramalho, Anabela, Amaral, Margarida D, Larriba, Sara, Casals, Teresa
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group 2014
Aiheet:
Linkit: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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