Diagnostic tools and CFTR functional assays in cystic fibrosis: utility and availability in Switzerland

Diagnostic tools and CFTR functional assays in cystic fibrosis: utility and availability in Switzerland

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...

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Bibliographic Details
Main Authors: Clara Fernandez Elviro, Sylvain Blanchon, Sylke Hoehnel, Urs Schumacher, Alain Sauty, Nathalie Brandenberg, Nicolas Regamey
Format: Article
Language:English
Published: SMW supporting association (Trägerverein Swiss Medical Weekly SMW) 2021-04-01
Series:Swiss Medical Weekly
Subjects:
cystic fibrosis diagnosis
CFTR functional assays
Nasal potential difference measurements
Forskolin-induced organoid swelling assays
Online Access:https://www.smw.ch/index.php/smw/article/view/2986

Internet

https://www.smw.ch/index.php/smw/article/view/2986

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