Article
Molecular analysis of mutations and polymorphisms in the CFTR gene in male infertility.
Reproductive biomedicine online - 1 Jul 2008
Tamburino L, Guglielmino A, Venti E, Chamayou S
Abstract excerpt
Mutations of the cystic fibrosis transmembrane regulator (CFTR) gene and polymorphisms, such as the (TG)m and Tn polymorphic loci in intron 8 at the splice acceptor site of exon 9, can cause male infertility. The aim of this study was to investigate the frequency of the most prevalent cystic-fibrosis-causing mutations, the IVS8-Tn alleles and IVS8-TG12 variant in the presence of IVS8-5T in patients with altered...
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