Next-Generation Sequencing for Screening Analysis of Cystic Fibrosis: Spectrum and Novel Variants in a South–Central Italian Cohort

Next-Generation Sequencing for Screening Analysis of Cystic Fibrosis: Spectrum and Novel Variants in a South–Central Italian Cohort

The incidence of cystic fibrosis (CF) and the spectrum of cystic fibrosis transmembrane conductance regulator (CFTR) gene variants differ among geographic regions. Differences in CF carrier distribution are also reported among Italian regions. We described the spectrum of the CFTR variants observed...

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Bibliographic Details
Main Authors: Elisa De Paolis, Bruno Tilocca, Carla Lombardi, Maria De Bonis, Paola Concolino, Maria Elisabetta Onori, Claudio Ricciardi Tenore, Alessia Perrucci, Paola Roncada, Ettore Capoluongo, Andrea Urbani, Angelo Minucci, Concetta Santonocito
Format: Article
Language:English
Published: MDPI AG 2023-08-01
Series:Genes
Subjects:
cystic fibrosis
cystic fibrosis transmembrane conductance regulator gene
CFTR
next-generation sequencing
cystic fibrosis carriers
Online Access:https://www.mdpi.com/2073-4425/14/8/1608

Internet

https://www.mdpi.com/2073-4425/14/8/1608

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