Associated Papers
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
39529847 (PubMed )
Supplement: Table1.XLSX › Supplement_1
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
Health Characteristics of Patients with Cystic Fibrosis whose Genotype Includes a Variant of the Nucleotide Sequence c.3140-16T>A and Functional Analysis of this Variant.
Kondratyeva E et al.
Genes, 2021
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
Targeted sequencing reveals complex, phenotype-correlated genotypes in cystic fibrosis.
Ivanov M et al.
Bmc Medical Genomics, 2018
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