Article
In cellulo analyses of the p.Val322Ala mutation on the CFTR protein conformation and activity.
Comptes rendus biologies - 1 Aug 2017
Farhat Raëd, El-Seedy Ayman, Sari Ariestya Indah Permata, Norez Caroline, Pasquet Marie-Claude, Becq Frédéric, Kitzis Alain, Ladevèze Véronique
Abstract excerpt
Cystic fibrosis is caused by mutations on the Cystic Fibrosis Transmembrane conductance Regulator gene (CFTR). Exonic mutations may have variable effect on the CFTR protein and may alter the normal localization of CFTR on the apical membrane of epithelial cells or/and its function as a chloride channel. Identifying the effect of a missense mutation can be a first step in helping the medical counseling and the...
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