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 - Tập 22 Số 5 - Trang 1285-1291 - 2007
Ilham Ratbi1, Marie Legendre1, Florence Niel1, Josiane Martin1, Jean-Claude Soufir2, Vincent Izard3, Bruno Costes1, Cathérine Costa1, Michel Goossens1, Emmanuelle Girodon1
1Service de Biochimie et Génétique Moléculaire, AP-HP et INSERM U841, IMRB, eq 21, Hôpital Henri-Mondor, Créteil, France.
2Service de Biologie de la Reproduction et du développement
3Service d'Urologie, AP-HP, Hôpital de Bicêtre, Le Kremlin-Bicêtre, France

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