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

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

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...

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Bibliographic Details
Main Authors: N. V. Petrova, N. Y. Kashirskaya, D. K. Saydaeva, A. V. Polyakov, T.A. Adyan, O. I. Simonova, Y. V. Gorinova, E. I. Kondratyeva, V. D. Sherman, O. G. Novoselova, T. A. Vasilyeva, A. V. Marakhonov, M. Macek, E. K. Ginter, R. A. Zinchenko
Format: Article
Language:English
Published: BMC 2019-03-01
Series:BMC Medical Genetics
Subjects:
Cystic fibrosis
CFTR mutations
Chechens
Russian Federation
Caucasus
c.1545_1546delTA (p.Tyr515X; 1677delTA)
Online Access:http://link.springer.com/article/10.1186/s12881-019-0785-z

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http://link.springer.com/article/10.1186/s12881-019-0785-z

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