Functional analysis of a promoter variant identified in the CFTR gene in cis of a frameshift mutation

Por Viart, Victoria, Georges, Marie Des, Claustres, Mireille, Taulan, Magali
Publicado em 2012

A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements

Por Taulan, Magali, Guittard, Caroline, Theze, Corinne, Claustres, Mireille, Georges, Marie des
Publicado em 2009

Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations ?

Por Claustres, Mireille, Altiéri, Jean-Pierre, Guittard, Caroline, Templin, Carine, Chevalier-Porst, Françoise, Georges, Marie Des
Publicado em 2004

p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study

Por René, Céline, Paulet, Damien, Girodon, Emmanuelle, Costa, Catherine, Lalau, Guy, Leclerc, Julie, Cabet-Bey, Faïza, Bienvenu, Thierry, Blayau, Martine, Iron, Albert, Mittre, Hervé, Feldmann, Delphine, Guittard, Caroline, Claustres, Mireille, Georges, Marie des
Publicado em 2011