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Article

Cystic fibrosis and infertility caused by congenital bilateral absence of the vas deferens and related clinical entities

1 Jan 1996

Abstract excerpt

The condition of congenital bilateral absence of the vas deferens (CBAVD) is, in the majority of patients, related to defects in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CBAVD patients either are compound heterozygotes (carrying different mutations in their two CFTR genes) or carry a mutation in one of their CFTR genes and an intron 8 5T splice variant, associated with low levels of...

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Identifiers

PMID: 9147111
DOI: 10.1093/humrep/11.suppl_4.55

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