Molecular and clinical features associated with CFTR gene rearrangements in Italian population: identification of a new duplication and recurrent deletions
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2007.00957.x/fullpdf
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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3. Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification;Clinical Chemistry;2018-07-01
4. A New Targeted CFTR Mutation Panel Based on Next-Generation Sequencing Technology;The Journal of Molecular Diagnostics;2017-09
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