Associated Papers
Clinical and genetic characteristics of diseases caused by CFTR gene mutations in 15 Chinese children: a retrospective analysis.
Bu H et al.
Bmc Pediatrics, 2025
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
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
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
Characterization of clinical and genetic spectrum of Chinese patients with cystic fibrosis.
Liu K et al.
Orphanet Journal of Rare Diseases, 2020
Cystic fibrosis genetic counseling difficulties due to the identification of novel mutations in the CFTR gene.
Poulou M et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2012
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