Associated Papers
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
Transmembrane Helices 7 and 8 Confer Aggregation Sensitivity to the Cystic Fibrosis Transmembrane Conductance Regulator.
Kleizen B et al.
International Journal of Molecular Sciences, 2023
Redefining Hypo- and Hyper-Responding Phenotypes of CFTR Mutants for Understanding and Therapy.
Hillenaar T et al.
International Journal of Molecular Sciences, 2022
Whole-Exome Sequencing Identified CFTR Variants in Two Consanguineous Families in China.
Yang B et al.
Frontiers in Genetics, 2021
34276759 (PubMed )
Supplement: Data_Sheet_1.docx
Liver Failure in a Chinese Cystic Fibrosis Child With Homozygous R553X Mutation.
Li H et al.
Frontiers in Pediatrics, 2019
A new compound heterozygous CFTR mutation in a Chinese family with cystic fibrosis.
Xie Y et al.
The Clinical Respiratory Journal, 2017
Select a paper to view details