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
Cystic fibrosis in Vietnam and Southeast Asia: underdiagnosis and genetic spectrum.
Cao-Pham HG et al.
Journal of Community Genetics, 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__genomic_info
Variability in disease severity among cystic fibrosis patients carrying residual-function variants: data from the European Cystic Fibrosis Society Patient Registry.
Mei-Zahav M et al.
Erj Open Research, 2025
39811546 (PubMed )
Supplement: 00587-2024.SUPPLEMENT.pdf
Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.
Nykamp K et al.
Human Mutation, 2021
34196078 (PubMed )
Supplement: HUMU-42-1165-s002.xlsx › Sheet1
The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients: Implications for Molecular Diagnostic Testing.
Schrijver I et al.
The Journal of Molecular Diagnostics : Jmd, 2016
Epidemiology and genetics of cystic fibrosis in Asia: In preparation for the next-generation treatments.
Singh M et al.
Respirology (carlton, Vic.), 2015
Approaches to study CFTR pre-mRNA splicing defects.
Goina E et al.
Methods in Molecular Biology (clifton, N.j.), 2011
Phenotype and genotype of two Taiwanese cystic fibrosis siblings and a survey of delta F508 in East Asians.
Lin CJ et al.
Pediatrics and Neonatology, 2008
A novel missense mutation A1081P in the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a Laotian patient with congenital bilateral absence of the vas deferens.
Ngukam A et al.
Journal of Tropical Pediatrics, 2004
Two novel null mutations in a Taiwanese cystic fibrosis patient and a survey of East Asian CFTR mutations.
Wong LJ et al.
American Journal of Medical Genetics. Part A, 2003
Detection of novel CFTR mutations in Taiwanese cystic fibrosis patients.
Alper OM et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2003
Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene.
Macek M et al.
Human Mutation, 1997
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