The CF-CIRC study: a French collaborative study to assess the accuracy of Cystic Fibrosis diagnosis in neonatal screening

• Main Authors: Bellon Gabriel (Author), Reix Philippe (Author), Huet Frédéric (Author), Deneuville Eric (Author), Bui Stéphanie (Author), Roussel Delphine (Author), Sermet-Gaudelus Isabelle (Author), Lenoir Gérard (Author), Edelman Aleksander (Author)
• Format: Book
• Published: BMC, 2006-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Cystic fibrosis (CF) is caused by mutations in the gene encoding for the CF transmembrane conductance regulator (CFTR) protein, which acts as a chloride channel after activation by cyclic AMP (cAMP). Newborn screening programs for CF...