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Article

Large genomic rearrangements in the CFTRgene contribute to CBAVD

20 Apr 2007

Abstract excerpt

BACKGROUND: By performing extensive scanning of whole coding and flanking sequences of the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene, we had previously identified point mutations in 167 out of 182 (91.7%) males with isolated congenital bilateral absence of the vas deferens (CBAVD). Conventional PCR-based methods of mutation analysis do not detect gross DNA lesions. In this study, we looked...

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PMID: 17448246
DOI: 10.1186/1471-2350-8-22

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