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Article

The Effect of Complex Alleles of the CFTR Gene on the Clinical Manifestations of Cystic Fibrosis and the Effectiveness of Targeted Therapy.

International journal of molecular sciences - 21 Dec 2023

Krasnova Maria, Efremova Anna, Bukhonin Artem, Zhekaite Elena, Bukharova Tatiana, Melyanovskaya Yuliya, Goldshtein Dmitry, Kondratyeva Elena

Abstract excerpt

The authors of this article analyzed the available literature with the results of studying the prevalence of complex alleles of the CFTR gene among patients with cystic fibrosis, and their pathogenicity and influence on targeted therapy with CFTR modulators. Cystic fibrosis (CF) is a multisystemic autosomal recessive disease caused by a defect in the expression of the CFTR protein, and more than 2000 genetic...

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Identifiers

PMID: 38203285
DOI: 10.3390/ijms25010114
PMCID: PMC10779438

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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