What Is Cystic Fibrosis?

doi:10.1056/nejme020070

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Article

What Is Cystic Fibrosis?

8 Aug 2002

Abstract excerpt

Cystic fibrosis is a heterogeneous recessive genetic disorder with pathobiologic features that reflect mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Classic cystic fibrosis reflects two loss-of-function mutations in the CFTR gene and is characterized by chronic bacterial infection of the airways and sinuses, fat maldigestion due to pancreatic exocrine insufficiency, infertility...

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PMID: 12167688
DOI: 10.1056/nejme020070

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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