Article
CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes.
Human mutation - 1 Nov 2012
El-Seedy Ayman, Girodon Emmanuelle, Norez Caroline, Pajaud Julie, Pasquet Marie-Claude, de Becdelièvre Alix, Bienvenu Thierry, des Georges Marie, Cabet Faïza, Lalau Guy, Bieth Eric, Blayau Martine, Becq Frédéric, Kitzis Alain, Fanen Pascale, Ladeveze Véronique
Abstract excerpt
Genotype-phenotype correlations in cystic fibrosis (CF) may be difficult to establish because of phenotype variability, which is associated with certain CF transmembrane conductance regulator (CFTR) gene mutations and the existence of complex alleles. To elucidate the clinical significance of complex alleles involving p.Gly149Arg, p.Asp443Tyr, p.Gly576Ala, and p.Arg668Cys, we performed a collaborative...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.