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
40429633 (PubMed )
Supplement: ijms-26-04487-s001.zip › CFTR2_25September2024.xlsx › CFTR2_variants__genomic_info
Pathogenic Variants and Genotypes of the CFTR Gene in Russian Men with Cystic Fibrosis and CBAVD Syndrome.
Chernykh V et al.
International Journal of Molecular Sciences, 2023
L138ins Variant of the CFTR Gene in Russian Infertile Men.
Chernykh V et al.
Genes, 2023
Personalized Selection of a CFTR Modulator for a Patient with a Complex Allele [L467F;F508del].
Kondratyeva E et al.
Current Issues in Molecular Biology, 2022
Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients.
Petrova NV et al.
Genes, 2020
Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus.
Petrova NV et al.
Bmc Medical Genetics, 2019
High prevalence of W1282x mutation in cystic fibrosis patients from Karachay-Cherkessia.
Petrova NV et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2016
[Reliability of the Search for 19 Common Mutations in the CFTR Gene in Russian Cystic Fibrosis Patients and the Calculated Frequency of the Disease in Russian Federation].
Stepanova AA et al.
Genetika, 2016
Sequencing of the CFTR gene in selected Turkish patients with cystic fibrosis.
Çankaya T et al.
Minerva Pediatrica, 2015
[Mutation p.E92K is the primary cause of cystic fibrosis in Chuvashes].
Stepanova AA et al.
Genetika, 2012
[Molecular genetic analysis of TUB18 and TUB20 intragenic polymorphism and various mutations of the CFTR gene in the Moscow region].
Sazonova MA et al.
Genetika, 1997
[TUB9 polymorphism in the CFTR gene of cystic fibrosis patients, carriers, and healthy donors from the Moscow region. SSCP and restriction analyses].
Amosenko FA et al.
Genetika, 1997
[Analysis of various polymorphic markers of the CFTR gene in cystic fibrosis patients and healthy donors from the Moscow region].
Amosenko FA et al.
Genetika, 1995
[Portion of certain cystic fibrosis gene mutations and linkage dysequilibrium between the CFTR-gene locus and two DNA marker loci in Russian populations].
Petrova NV et al.
Genetika, 1994
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