Article
Lessons from other fields of medicine, Part 2: Cystic fibrosis.
Handbook of clinical neurology - 1 Jan 2023
Vijaykumar Kadambari, Rowe Steven M
Abstract excerpt
Cystic fibrosis (CF), first described in 1938, is a common, life-limiting monogenetic disease. The discovery of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in 1989 was crucial in advancing our understanding of disease pathogenesis and paving the road for treatment aimed at the fundamental molecular defect. With the delineation of over 2000 variations in the CFTR gene, a sound understanding...
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