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

• Autori principali: Bellon Gabriel (Autore), Reix Philippe (Autore), Huet Frédéric (Autore), Deneuville Eric (Autore), Bui Stéphanie (Autore), Roussel Delphine (Autore), Sermet-Gaudelus Isabelle (Autore), Lenoir Gérard (Autore), Edelman Aleksander (Autore)
• Natura: Libro
• Pubblicazione: BMC, 2006-10-01T00:00:00Z.
• Soggetti: article
• Accesso online: 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...