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

HIGHLIGHTS

• who: N. V. Petrova from the Genetics", Moscow, Russia have published the research work: 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, in the Journal: (JOURNAL)
• what: The distribution of CFTR mutations in the Chechen CF population is unique in terms of the high frequency of mutations c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G > A (p.Glu92Lys, E92K), which account for more than 90% of the mutant alleles in the studied ethnic group.
 



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