Article
High frequency of complex CFTR alleles associated with c.1521_1523delCTT (F508del) in Russian cystic fibrosis patients.
BMC genomics - 1 Apr 2022
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
Abstract excerpt
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 alleles in Russian CF patients have just begun. Aim To evaluate frequencies and genetic background of complex...
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