Article
Characterization of a novel isolated deletion of the exon 3 within the CFTR gene: Relevance for phenotypic expression and genetic counseling.
Clinical biochemistry - 1 Jul 2011
Tomaiuolo Anna Cristina, Sirleto Pietro, Centrone Claudia, Surace Cecilia, Alghisi Federico, Petrocchi Stefano, Lombardo Antonietta, Rossi Maja, Torricelli Francesca, Lucidi Vincenzina, Angioni Adriano
Abstract excerpt
OBJECTIVES: To characterize a novel deletion of exon 3 of CFTR gene and to evaluate the implications in Cystic Fibrosis (CF) care and genetic counseling. DESIGN AND METHODS: We performed a wide mutational analysis of CFTR gene, using reverse dot blot, Multiplex Ligation-dependent Probe Amplification (MLPA) assay and Real Time Quantitative PCR, in a carrier male and two CF patients with the F508del mutation....
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