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Article

Identification of the second CFTR mutation in patients with congenital bilateral absence of vas deferens undergoing ART protocols

26 Jul 2010

Abstract excerpt

Congenital bilateral absence of vas deferens (CBAVD) is a manifestation of the mildest form of cystic fibrosis (CF) and is characterized by obstructive azoospermia in otherwise healthy patients. Owing to the availability of assisted reproductive technology, CBAVD patients can father children. These fathers are at risk of transmitting a mutated allele of the CF transmembrane conductance regulator (CFTR) gene,...

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PMID: 20657600
DOI: 10.1038/aja.2010.58

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