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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Detalles Bibliográficos
Autores principales: De Paolis, Elisa, Tilocca, Bruno, Lombardi, Carla, De Bonis, Maria, Concolino, Paola, Onori, Maria Elisabetta, Ricciardi Tenore, Claudio, Perrucci, Alessia, Roncada, Paola, Capoluongo, Ettore, Urbani, Andrea, Minucci, Angelo, Santonocito, Concetta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454170/
https://www.ncbi.nlm.nih.gov/pubmed/37628659
http://dx.doi.org/10.3390/genes14081608

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454170/
https://www.ncbi.nlm.nih.gov/pubmed/37628659
http://dx.doi.org/10.3390/genes14081608

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