A commentary on the novel complex allele [A238V;F508del] of the CFTR gene: clinical phenotype and possible implications for cystic fibrosis etiological therapies.
Department of Cellular Biotechnologies and Hematology, Sapienza University of Rome, Rome, Italy and Pasteur Institute, Cenci Bolognetti Foundation, Sapienza University of Rome, Rome, Italy.
Marco
http://orcid.org/0000-0002-5538-2494
M
Lucarelli
D000483:Alleles; D003550:Cystic Fibrosis; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D006801:Humans; D009154:Mutation; D010641:Phenotype
D019005:Cystic Fibrosis Transmembrane Conductance Regulator