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Precision Medicine Based on CFTR Genotype for People with Cystic Fibrosis

1 Feb 2022

Abstract excerpt

Abstract: Cystic fibrosis (CF) is an autosomal recessive genetic condition that is caused by variants in the cystic fibrosis transmembrane conductance regulator gene. This causes multisystem disease due to dysfunction of the cystic fibrosis transmembrane conductance regulator (CFTR) ion channel at the apical surface of epithelia. Until recently, treatment was directed at managing the downstream effects in...

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PMID: 35153502
DOI: 10.2147/pgpm.s245603

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