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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...
Autores principales: | Chamayou, Sandrine, Sicali, Maria, Lombardo, Debora, Maglia, Elena, Liprino, Annalisa, Cardea, Clementina, Fichera, Michele, Venti, Ermanno, Guglielmino, Antonino |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
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 |
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