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[The frequency and spectrum of mutations and the IVS8-T polymorphism of the CFTR gene in Russian infertile men].

Genetika - 1 Jun 2010

Chernykh V B, Stepanova A A, Beskorovaĭnaia T S, Sorokina T M, Shileĭko L V, Kurilo L F, Poliakov A V

Abstract excerpt

The frequency and spectrum of mutations and the IVS8- T polymorphism of the CFTR gene have been studied in a sample of 963 in Russian infertile men. Mutations have been found in 48 out of 1926 analyzed chromosomes (2.5%) in the heterozygous state (n = 46) and in the compound heterozygote L138ins/N1303K (n = 1/n = 1). A CFTR gene mutation was combined with the 5T allele (mutCFTR/5T) in 11 patients. The following...

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Identifiers

PMID: 20734777

Genes

CFTR

Provenance

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