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
Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families.
Ahting S et al.
International Journal of Molecular Sciences, 2025
Correction of substitution, deletion, and insertion mutations by 5'-tailed duplexes.
Kawai H et al.
Journal of Bioscience and Bioengineering, 2024
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
Molecular dynamics and functional characterization of I37R-CFTR lasso mutation provide insights into channel gating activity.
Wong SL et al.
Iscience, 2022
Deletion of CFTR translation start site reveals functional isoforms of the protein in CF patients.
Ramalho AS et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2009
Spectrum of CFTR mutations on Réunion Island: impact on neonatal screening.
Bienvenu T et al.
Human Biology, 2005
High heterogeneity of CFTR mutations and unexpected low incidence of cystic fibrosis in the Mediterranean France.
des Georges M et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2004
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
Claustres M et al.
Human Mutation, 2000
CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France.
Claustres M et al.
Human Genetics, 1996
CFTR haplotype backgrounds on normal and mutant CFTR genes.
Cuppens H et al.
Human Molecular Genetics, 1994
A novel splice site mutation in the first exon of the cystic fibrosis transmembrane regulator (CFTR) gene identified in a CBAVD patient.
Culard JF et al.
Human Molecular Genetics, 1994
Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern France.
Claustres M et al.
Human Molecular Genetics, 1993