Article
High prevalence of W1282x mutation in cystic fibrosis patients from Karachay-Cherkessia.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 May 2016
Petrova N V, Kashirskaya N Yu, Vasilyeva T A, Timkovskaya E E, Voronkova A Yu, Shabalova L A, Kondratyeva E I, Sherman V D, Novoselova O G, Kapranov N I, Zinchenko R A, Ginter E K, Makaov A Kh-M, Kerem B
Abstract excerpt
Cystic fibrosis (CF; OMIM #219700) is a common autosomal recessive disease. The spectrum and frequency of CFTR mutations vary significantly in different populations and ethnic groups. A genetic epidemiological study was conducted in the indigenous ethnic group of people known as the Karachais. They live in the Republic of Karachay-Cherkessia, which lies in the northwest of Russia's North Caucasus region....
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