CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders
CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders
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Author / Creator
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 , the collaborating working group on p.Arg117His and collaborating working group on p.Arg117His
Publisher
England: BMJ Publishing Group Ltd
Journal title
Language
English
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Publication information
Publisher
England: BMJ Publishing Group Ltd
Subjects
More information
Scope and Contents
Contents
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...
Alternative Titles
Full title
CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders
Authors, Artists and Contributors
Author / Creator
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
the collaborating working group on p.Arg117His
collaborating working group on p.Arg117His
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_02446166v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_02446166v1
Other Identifiers
ISSN
0022-2593,1468-6244
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2012-101427
