Article
Complexity of phenotypes induced by p.Asn1303Lys-CFTR correlates with difficulty to rescue and activate this protein.
Cellular and molecular biology (Noisy-le-Grand, France) - 30 Nov 2017
Farhat Raëd, El-Seedy Ayman, Norez Caroline, Talbot Hugo, Pasquet Marie-Claude, Adolphe Catherine, Kitzis Alain, Ladevèze Véronique
Abstract excerpt
Cystic Fibrosis is the most common recessive autosomal rare disease found in Caucasian. It is caused by mutations on the Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR) that encodes for a protein located on the apical membrane of epithelial cells. c.3909C>G (p.Asn1303Lys) is one of the most common worldwide mutations located in nucleotide binding domain 2. The effect of the p.Asn1303Lys...
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