Article
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.
Genes - 28 May 2021
Kondratyeva Elena, Bukharova Tatyana, Efremova Anna, Melyanovskaya Yuliya, Bulatenko Natalia, Davydenko Ksenia, Filatova Alexandra, Skoblov Mikhail, Krasovsky Stanislav, Petrova Nika, Polyakov Alexander, Adyan Tagui, Amelina Elena, Shadrina Vera, Zhekaite Elena, Zodbinova Aysa, Chernyak Alexander, Zinchenko Rena, Kutsev Sergei, Goldshtein Dmitry
Abstract excerpt
Cystic fibrosis (CF) is the most common monogenic autosomal recessive disease, associated with pathogenic variants in the CFTR gene. The splicing variant c.3140-16T>A (3272-16T>A) has been described previously and, according to the Russian CF Patients Registry, occurs with a frequency of 0.34%. The phenotypic features of CF patients with the c.3140-16T>A variant were compared with those of patients with the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.