Article
Application of pyrosequencing to the identification of sequence variations in the cystic fibrosis transmembrane conductance regulator gene.
Clinical chemistry and laboratory medicine - 1 Jan 2009
Mari Caterina, Bruno Francesca, Galbiati Silvia, Torri Anna, Lombardo Federica, Seia Manuela, Ferrari Maurizio, Restagno Gabriella, Cremonesi Laura
Abstract excerpt
BACKGROUND: A high number of mutations associated with cystic fibrosis have been identified in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, most of which are rare and, therefore, hamper extensive molecular diagnosis. In couples undergoing prenatal diagnosis where no mutati...
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