Review Note
Last Update: 06/26/2023 03:56 PM
Current Deck: PA Summer 23 Seth::Clin Med III::03. Pulm::10. Cystic Fibrosis
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introduction
- CF is an {{c1::autosomal recessive}} disorder caused by mutations of {{c1::both}} alleles of the gene located on chromosome {{c1::7}} called the CF transmembrane conductance regulator (CFTR)
- CFTR protein is a {{c2::cAMP}}-regulated {{c2::chloride}} channel that usually resides within the apical portion of the mucosal epithelial cells
- >2000 distinct CFTR variants have been identified
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