The true panel of cystic fibrosis mutations in the Sicilian population

BACKGROUND: The aim was to establish the true risk of having an affected child with Cystic Fibrosis (CF) in the Sicilian infertile population. METHODS: A longitudinal CFTR screening of 1279 Sicilian infertile patients for all CFTR mutations sequencing the entire gene by Next Generation Sequencing (N...

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Detalles Bibliográficos
Autores principales: Chamayou, Sandrine, Sicali, Maria, Lombardo, Debora, Maglia, Elena, Liprino, Annalisa, Cardea, Clementina, Fichera, Michele, Venti, Ermanno, Guglielmino, Antonino
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7195759/
https://www.ncbi.nlm.nih.gov/pubmed/32357917
http://dx.doi.org/10.1186/s12881-020-0958-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7195759/
https://www.ncbi.nlm.nih.gov/pubmed/32357917
http://dx.doi.org/10.1186/s12881-020-0958-9

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