The CF-modifying gene EHF promotes p.Phe508del-CFTR residual function by altering protein glycosylation and trafficking in epithelial cells

The three-base-pair deletion c.1521_1523delCTT (p.Phe508del, F508del) in the cystic fibrosis transmembrane conductance regulator (CFTR) is the most frequent disease-causing lesion in cystic fibrosis (CF). The CFTR gene encodes a chloride and bicarbonate channel at the apical membrane of epithelial c...

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Hauptverfasser: Stanke, Frauke, van Barneveld, Andrea, Hedtfeld, Silke, Wölfl, Stefan, Becker, Tim, Tümmler, Burkhard
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2014
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3992571/
https://ncbi.nlm.nih.gov/pubmed/24105369
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.209
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