The Spectrum and Carrier Frequencies of Common Pathogenic Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations in Men from the General Population: The Role of Ethnicity

Abstract excerpt

Mutations in the CFTR gene, which cause the autosomal recessive disease cystic fibrosis, can also affect male fertility. The aim of this study was to investigate the spectrum and carrier frequency of common pathogenic CFTR variants among men from the general population, analyze ethnic differences, and assess associations with male fertility indicators. Male volunteers (n = 1895) from six cities in Russia and...

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