Associated Papers
L467F;F508del Complex Allele in a Heterozygous State with CFTRdele2,3: What to Expect from CFTR Modulators?
Kondratyeva E et al.
International Journal of Molecular Sciences, 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
Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families.
Ahting S et al.
International Journal of Molecular Sciences, 2025
Estimation of Chloride Channel Residual Function and Assessment of Targeted Drugs Efficiency in the Presence of a Complex Allele [L467F;F508del] in the CFTR Gene.
Efremova A et al.
International Journal of Molecular Sciences, 2024
Study of the genetic and molecular epidemiology of cystic fibrosis based on the patient registry for planning targeted therapy in Russian Federation.
Kondratyeva E et al.
Frontiers in Genetics, 2024
Multicenter Surveillance of Cystic Fibrosis in Korean Children.
Kim HY et al.
Allergy, Asthma & Immunology Research, 2022
Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China.
Shen Y et al.
Journal of Medical Genetics, 2022
Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.
Ni Q et al.
Orphanet Journal of Rare Diseases, 2022
The Genetic Analysis of Cystic Fibrosis Patients With Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey.
Erdoğan M et al.
Balkan Medical Journal, 2021
Association Between Cystic Fibrosis Severity Markers and CFTR Genotypes in Turkish Children.
Başaran AE et al.
Turkish Thoracic Journal, 2021
Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients.
Petrova NV et al.
Genes, 2020
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Comprehensive genotyping reveals novel CFTR variants in cystic fibrosis patients from the Russian Federation.
Petrova NV et al.
Clinical Genetics, 2019
Epidemiology and genetics of cystic fibrosis in Asia: In preparation for the next-generation treatments.
Singh M et al.
Respirology (carlton, Vic.), 2015
An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects.
Fernandez Alanis E et al.
Human Molecular Genetics, 2012
Heterogeneous spectrum of CFTR gene mutations in Korean patients with cystic fibrosis.
Jung H et al.
The Korean Journal of Laboratory Medicine, 2011
Novel CFTR mutations in a Korean infant with cystic fibrosis and pancreatic insufficiency.
Choe YJ et al.
Journal of Korean Medical Science, 2010