Article
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.
Human reproduction (Oxford, England) - 1 May 2007
Ratbi Ilham, Legendre Marie, Niel Florence, Martin Josiane, Soufir Jean-Claude, Izard Vincent, Costes Bruno, Costa Catherine, Goossens Michel, Girodon Emmanuelle
Abstract excerpt
BACKGROUND: Mutations in the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene have been widely detected in infertile men with congenital bilateral absence of the vas deferens (CBAVD). Despite extensive analysis of the CFTR gene using varied screening methods, a number of cases...
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