Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs.

doi:10.1038/sj.ejhg.5201437

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Article

Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs.

European journal of human genetics : EJHG - 1 Aug 2005

Stuppia Liborio, Antonucci Ivana, Binni Francesco, Brandi Alessandra, Grifone Nicoletta, Colosimo Alessia, De Santo Mariella, Gatta Valentina, Gelli Gianfranco, Guida Valentina, Majore Silvia, Calabrese Giuseppe, Palka Chiara, Ravani Anna, Rinaldi Rosanna, Tiboni Gian Mario, Ballone Enzo, Venturoli Anna, Ferlini Alessandra, Torrente Isabella, Grammatico Paola, Calzolari Elisa, Dallapiccola Bruno

Abstract excerpt

Genetic testing of the cystic fibrosis transmembrane conductance (CFTR) gene is currently performed in couples undergoing assisted reproduction techniques (ART), because of the high prevalence of healthy carriers in the population and the pathogenic relationship with congenital bilateral absence of vas deferens (CBAVD). However, discordant data have been reported concerning the usefulness of this genetic test in...

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PMID: 15870824
DOI: 10.1038/sj.ejhg.5201437

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CFTR

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