Article
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.
International journal of molecular sciences - 27 Sept 2024
Efremova Anna, Melyanovskaya Yuliya, Krasnova Maria, Voronkova Anna, Mokrousova Diana, Zhekaite Elena, Bulatenko Nataliya, Makhnach Oleg, Bukharova Tatiana, Kutsev Sergei, Goldshtein Dmitry, Kondratyeva Elena
Abstract excerpt
Complex alleles of the CFTR gene complicate the diagnosis of cystic fibrosis (CF), the classification of its pathogenic variants, affect the clinical picture of the disease and can affect the efficiency of targeted drugs. The total frequency of complex allele [L467F;F508del] in the Russian population of patients with CF is 0.74%, and in patients with the F508del/F508del genotype, its frequency reaches 8%. This...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.