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Cystic fibrosis is a monogenic disease (Genetic Disorders) affecting at least 100,000 people worldwide. It is caused by mutations in the cftr gene (mutant), which encodes the epithelial CFTR anion channel responsible for transporting chloride and bicarbonate. These mutations lead to impaired mucus hydration and clearance.
It results in a multi-organ disease with progressive respiratory decline (progressive lung disease) that ultimately leads to premature death.
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