Article
Diagnostic tools and CFTR functional assays in cystic fibrosis: utility and availability in Switzerland.
Swiss medical weekly - 12 Apr 2021
Fernandez Elviro Clara, Blanchon Sylvain, Hoehnel Sylke, Schumacher Urs, Sauty Alain, Brandenberg Nathalie, Regamey Nicolas
Abstract excerpt
Cystic fibrosis (CF) is a genetic disease caused by a bi-allelic mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. When the diagnosis cannot be confirmed by a positive sweat test or/and the identification of two CF-causing variants, international guidelines recommend the use of CFTR functional assays. These tests assess whether CFTR activity is normal or diminished/absent through...
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