The true panel of cystic fibrosis mutations in the Sicilian population

• Main Authors: Sandrine Chamayou (Author), Maria Sicali (Author), Debora Lombardo (Author), Elena Maglia (Author), Annalisa Liprino (Author), Clementina Cardea (Author), Michele Fichera (Author), Ermanno Venti (Author), Antonino Guglielmino (Author)
• פורמט: ספר
• יצא לאור: BMC, 2020-05-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Abstract 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 Sequen...