The importance of functional tests to assess the effect of a new CFTR variant when genotype–phenotype correlation is not possible

por Hinzpeter, Alexandre, Reboul, Marie‐Pierre, Callebaut, Isabelle, Zordan, Cécile, Costes, Bruno, Guichoux, Julie, Iron, Albert, Lacombe, Didier, Martin, Natacha, Arveiler, Benoit, Fanen, Pascale, Fergelot, Patricia, Girodon, Emmanuelle
Publicado 2017

Alternative Splicing at a NAGNAG Acceptor Site as a Novel Phenotype Modifier

por Hinzpeter, Alexandre, Aissat, Abdel, Sondo, Elvira, Costa, Catherine, Arous, Nicole, Gameiro, Christine, Martin, Natacha, Tarze, Agathe, Weiss, Laurence, de Becdelièvre, Alix, Costes, Bruno, Goossens, Michel, Galietta, Luis J., Girodon, Emmanuelle, Fanen, Pascale
Publicado 2010

Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons

por Pranke, Iwona, Bidou, Laure, Martin, Natacha, Blanchet, Sandra, Hatton, Aurélie, Karri, Sabrina, Cornu, David, Costes, Bruno, Chevalier, Benoit, Tondelier, Danielle, Girodon, Emmanuelle, Coupet, Matthieu, Edelman, Aleksander, Fanen, Pascale, Namy, Olivier, Sermet-Gaudelus, Isabelle, Hinzpeter, Alexandre
Publicado 2018