Associated Papers
Elexacaftor-tezacaftor-ivacaftor in people with cystic fibrosis harbouring two CFTR Class I variants: real-world data from the French compassionate programme.
Burgel PR et al.
Eclinicalmedicine, 2025
40932846 (PubMed )
Supplement: mmc2.xlsx › TRUE
Mutation characterisation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in people with cystic fibrosis in Northern Ireland.
Blevings PJ et al.
The Ulster Medical Journal, 2025
Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families.
Ahting S et al.
International Journal of Molecular Sciences, 2025
40429633 (PubMed )
Supplement: ijms-26-04487-s001.zip › CFTR2_25September2024.xlsx › CFTR2_variants_by_legacy_name
Use of adenine base editing and homology-independent targeted integration strategies to correct the cystic fibrosis causing variant, W1282X.
Mention K et al.
Human Molecular Genetics, 2023
37649273 (PubMed )
Supplement: all_supplemental_figures_and_tables_final_ddad143.pdf
Clinical characteristics of rare CFTR mutations causing cystic fibrosis in Polish population.
Zybert K et al.
Pediatric Pulmonology, 2020
Uncommon clinical presentation of cystic fibrosis in a patient homozygous for a rare CFTR mutation: a case report.
Jaworska J et al.
Bmc Pediatrics, 2020
CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients.
Ziętkiewicz E et al.
Plos One, 2014
Clinical complications in children with false-negative results in cystic fibrosis newborn screening.
Zybert K et al.
Jornal De Pediatria, 0
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