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

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%...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8229552/
https://www.ncbi.nlm.nih.gov/pubmed/34071719
http://dx.doi.org/10.3390/genes12060837

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8229552/
https://www.ncbi.nlm.nih.gov/pubmed/34071719
http://dx.doi.org/10.3390/genes12060837

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