Article
Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assay.
Clinical chemistry and laboratory medicine - 1 Oct 2015
Giorgi Gianpietro, Casarin Alberto, Trevisson Eva, Donà Marta, Cassina Matteo, Graziano Claudio, Picci Luigi, Clementi Maurizio, Salviati Leonardo
Abstract excerpt
BACKGROUND: Cystic fibrosis, caused by mutations of the CFTR gene, is the most common autosomal recessive condition in the European population and there are specific screening programs aimed at investigating healthy carriers. They are usually articulated in two steps: initially individuals are screened with a panel of the 20-50 most common CFTR mutations; the second step is offered to partners of carriers who...
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