Molecular and clinical features associated with CFTR gene rearrangements in Italian population: identification of a new duplication and recurrent deletions

Author:

Paracchini V,Seia M,Coviello D,Porcaro L,Costantino L,Capasso P,Degiorgio D,Padoan R,Corbetta C,Claut L,Costantini D,Colombo C

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference24 articles.

1. Assemblea dei Direttori dei Centri. Regional differences in the incidence of cystic fibrosis in Italy;Padoan;Ital J Pediatr,2001

2. What is cystic fibrosis?;Knowles;N Engl J Med,2002

3. Identification of the cystic fibrosis gene: genetic analysis;Kerem;Science,1989

4. Cystic fibrosis: a worldwide analysis of CFTR mutations - correlation with incidence data and application to screening;Bobadilla;Hum Mutat,2002

5. Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms;Audrezet;Hum Mutat,2004

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