High frequency of complex CFTR alleles associated with c.1521_1523delCTT (F508del) in Russian cystic fibrosis patients

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...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8973895/
https://www.ncbi.nlm.nih.gov/pubmed/35365085
http://dx.doi.org/10.1186/s12864-022-08466-z

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