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

BACKGROUND: 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 usually consist of an immunoreactive trypsinogen (IRT)...

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Detalhes bibliográficos
Main Authors: Sermet-Gaudelus, Isabelle, Roussel, Delphine, Bui, Stéphanie, Deneuville, Eric, Huet, Frédéric, Reix, Philippe, Bellon, Gabriel, Lenoir, Gérard, Edelman, Aleksander
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2006
Assuntos:
Study Protocol
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1599715/
https://ncbi.nlm.nih.gov/pubmed/17018149
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2431-6-25
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