Article
[Therapeutic advances in cystic fibrosis: from genetics to treatment personalized].
La Revue du praticien - 1 Oct 2022
Reynaud Quitterie, Durupt Stéphane, Durieu Isabelle
Abstract excerpt
THERAPEUTIC ADVANCES IN CYSTIC FIBROSIS: FROM GENETICS TO TREATMENT PERSONALIZED. Cystic fibrosis is a severe monogenic disease that affects around 7 300 patients in France. Mutations (> 2 000) in CFTR, the gene encoding for an epithelial ion channel that normally transports chloride and bicarbonate ions, lead to mucus dehydration and impaired bronchial clearance and pancreatic functions. Systematic neonatal...
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