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February 28, 2007Human Reproduction

Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling

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Authors

IRIlham RatbiMohammed V UniversityMLMarie LegendreInsermFNFlorence NielCentre Hospitalier Universitaire de Bordeaux

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Ratbi et al. (2007) studied this question.

synapsesocial.com/papers/6a7e5ae27ddcd43fa24f9b4ahttps://doi.org/10.1093/humrep/dem024
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Also Consider

Synapse has enriched 3 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1CFTR Gene Mutations in Adults with Disseminated Bronchiectasis1997 · 179 citations
  2. 2Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis1995 · 193 citations
  3. 3A new largeCFTRrearrangement illustrates the importance of searching for complex alleles2006 · 34 citations