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.

Autor: Petrova NV; Federal State Scientific Budgetary Institution 'Research Centre for Medical Genetics', Moscow, Russia., Kashirskaya NY; Federal State Scientific Budgetary Institution 'Research Centre for Medical Genetics', Moscow, Russia. kashirskayanj@mail.ru., Saydaeva DK; State Budgetary Institution 'Maternity Hospital' of the Ministry of Healthcare of the Chechen Republic, Grozny, Chechen Republic, Russia., Polyakov AV; Federal State Scientific Budgetary Institution 'Research Centre for Medical Genetics', Moscow, Russia., Adyan TA; Federal State Scientific Budgetary Institution 'Research Centre for Medical Genetics', Moscow, Russia., Simonova OI; National Medical Research Center of Children's Health, Federal State Autonomous Institution of the Russian Federation Ministry of Health, Moscow, Russia., Gorinova YV; National Medical Research Center of Children's Health, Federal State Autonomous Institution of the Russian Federation Ministry of Health, Moscow, Russia., Kondratyeva EI; Federal State Scientific Budgetary Institution 'Research Centre for Medical Genetics', Moscow, Russia., Sherman VD; Federal State Scientific Budgetary Institution 'Research Centre for Medical Genetics', Moscow, Russia., Novoselova OG; Federal State Scientific Budgetary Institution 'Research Centre for Medical Genetics', Moscow, Russia., Vasilyeva TA; Federal State Scientific Budgetary Institution 'Research Centre for Medical Genetics', Moscow, Russia., Marakhonov AV; Federal State Scientific Budgetary Institution 'Research Centre for Medical Genetics', Moscow, Russia., Macek M Jr; Department of Biology and Medical Genetics, 2nd Faculty of Medicine of Charles University Prague and Motol University Hospital, Prague, Czech Republic., Ginter EK; Federal State Scientific Budgetary Institution 'Research Centre for Medical Genetics', Moscow, Russia., Zinchenko RA; Federal State Scientific Budgetary Institution 'Research Centre for Medical Genetics', Moscow, Russia.; Federal State Budgetary Educational Institution of Higher Education 'N.I. Pirogov Russian National Research Medical University' of the Ministry of Healthcare of the Russian Federation, Moscow, Russia.

Publikováno v: BMC medical genetics [BMC Med Genet] 2019 Mar 21; Vol. 20 (1), pp. 44. Date of Electronic Publication: 2019 Mar 21.