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Article

Disease burden in people with cystic fibrosis heterozygous for F508del and a minimal function mutation.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Jan 2022

Sawicki Gregory S, Van Brunt Kate, Booth Jason, Bailey Evan, Millar Stefanie J, Konstan Michael W, Flume Patrick A

Abstract excerpt

BACKGROUND: People with cystic fibrosis (CF) heterozygous for F508del-CFTR and a minimal function CFTR mutation (F/MF) that results in no CFTR protein or results in CFTR protein that is not responsive to tezacaftor, ivacaftor, and tezacaftor/ivacaftor in vitro comprise a sizeable percentage of the US CF population. This retrospective, cross-sectional, observational study aimed to characterize CF burden in this...

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Identifiers

PMID: 34289939
DOI: 10.1016/j.jcf.2021.07.003
PMCID: PMC9588169

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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