Clinical and genetic characterization of patients with cystic fibrosis and functional assessment of the chloride channel with the pathogenic variant c.831G>A (p.Trp277*), described for the first time
Titel:
Clinical and genetic characterization of patients with cystic fibrosis and functional assessment of the chloride channel with the pathogenic variant c.831G>A (p.Trp277*), described for the first time
Auteur:
Kondratyeva, E. Efremova, A. Melyanovskaya, Yu. Petrova, N. Satsuk, N. Bulatenko, N. Bukharova, T. Zodbinova, A. Sherman, V. Kashirskaya, N. Zinchenko, R. Kutsev, S. Goldshtein, D.