Article
CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders.
Journal of medical genetics - 1 Apr 2013
Thauvin-Robinet Christel, Munck Anne, Huet Frédéric, de Becdelièvre Alix, Jimenez Clément, Lalau Guy, Gautier Elodie, Rollet Jacques, Flori Jean, Nové-Josserand Raphaëlle, Soufir Jean-Claude, Haloun Alain, Hubert Dominique, Houssin Elise, Bellis Gil, Rault Gilles, David Albert, Janny Laurent, Chiron Raphaël, Rives Nathalie, Hairion Dominique, Collignon Patrick, Valeri Antoine, Karsenty Gilles, Rossi Annick, Audrézet Marie-Pierre, Férec Claude, Leclerc Julie, Georges Marie des, Claustres Mireille, Bienvenu Thierry, Gérard Bénédicte, Boisseau Pierre, Cabet-Bey Faïza, Cheillan David, Feldmann Delphine, Clavel Christine, Bieth Eric, Iron Albert, Simon-Bouy Brigitte, Izard Vincent, Steffann Julie, Viville Stéphane, Costa Catherine, Drouineaud Véronique, Fauque Patricia, Binquet Christine, Bonithon-Kopp Claire, Morris Mike A, Faivre Laurence, Goossens Michel, Roussey Michel, Girodon Emmanuelle
Abstract excerpt
BACKGROUND: The high frequency of the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene mutation p.Arg117His in patients with congenital bilateral absence of the vas deferens (CBAVD) and in newborns screened for CF has created a dilemma. METHODS: Phenotypic and genotypic data were retrospectively collected in 179 non-newborn French individuals carrying p.Arg117His and a second CFTR mutation...
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