Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus

BACKGROUND: Cystic fibrosis (CF; OMIM #219700) is a common autosomal recessive disease caused by pathogenic variants (henceforward mutations) in the cystic fibrosis transmembrane conductance regulator gene (CFTR). The spectrum and frequencies of CFTR mutations vary among different populations. Chara...

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Detalles Bibliográficos
Autores principales: Petrova, N. V., Kashirskaya, N. Y., Saydaeva, D. K., Polyakov, A. V., Adyan, T.A., Simonova, O. I., Gorinova, Y. V., Kondratyeva, E. I., Sherman, V. D., Novoselova, O. G., Vasilyeva, T. A., Marakhonov, A. V., Macek, M., Ginter, E. K., Zinchenko, R. A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6429818/
https://www.ncbi.nlm.nih.gov/pubmed/30898088
http://dx.doi.org/10.1186/s12881-019-0785-z

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