Article
Novel cause of hereditary obstructive azoospermia: a T2 allele in the CFTR gene.
Reproductive biomedicine online - 1 Mar 2009
Radpour Ramin, Taherzadeh-Fard Elahe, Gourabi Hamid, Aslani Sahar, Vosough Dizaj Ahmad, Aslani Ali
Abstract excerpt
Congenital bilateral absence of the vas deferens (CBAVD) is a frequent cause of obstructive azoospermia, and caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. A novel TG(13)T(2) allele was identified in a CBAVD patient with no clinical cystic fibrosis phenotype, normal pancreatic function, normal sweat chloride concentrations and no Y chromosome microdeletions. This case...
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