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

• Main Authors: N. V. Petrova (Author), N. Y. Kashirskaya (Author), D. K. Saydaeva (Author), A. V. Polyakov (Author), T.A. Adyan (Author), O. I. Simonova (Author), Y. V. Gorinova (Author), E. I. Kondratyeva (Author), V. D. Sherman (Author), O. G. Novoselova (Author), T. A. Vasilyeva (Author), A. V. Marakhonov (Author), M. Macek (Author), E. K. Ginter (Author), R. A. Zinchenko (Author)
• Format: Book
• Published: BMC, 2019-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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 population...