High frequency of complex CFTR alleles associated with c.1521_1523delCTT (F508del) in Russian cystic fibrosis patients

Cystic fibrosis (CF, MIM# 219,700) is an autosomal recessive disease caused by pathogenic variants within the CFTR gene. It was shown that genetic variants located in cis can affect disease severity or treatment response because of additive or epistatic effects. Studies on the prevalence of complex...

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Bibliographic Details
Published in:	BMC genomics Vol. 23; no. 1; p. 252
Main Authors:	Petrova, Nika V, Kashirskaya, Nataliya Y, Vasilyeva, Tatyana A, Balinova, Natalia V, Marakhonov, Andrey V, Kondratyeva, Elena I, Zhekaite, Elena K, Voronkova, Anna Y, Kutsev, Sergey I, Zinchenko, Rena A
Format:	Journal Article
Language:	English
Published:	England BioMed Central Ltd 01-04-2022 BioMed Central BMC
Subjects:	Alleles Allelomorphism CFTR Chromosomes Cis-mutation Complex alleles Cystic fibrosis Cystic Fibrosis - genetics Cystic fibrosis transmembrane conductance regulator Cystic Fibrosis Transmembrane Conductance Regulator - genetics Disease Epistasis Feces Gene frequency Gene mutations Genetic aspects Genetic diversity Genetic variance Genomics Genotypes Haplotypes Health services Homozygote Humans Medical research Medicine, Experimental Modulators Mutation Patients Peptides, Cyclic - metabolism Polymorphism Risk factors Russian patients Russia Cis-mutation Cystic fibrosis Russian patients CFTR Complex alleles
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