<i>APC</i> Splicing Mutations Leading to In-Frame Exon 12 or Exon 13 Skipping Are Rare Events in FAP Pathogenesis and Define the Clinical Outcome

<i>APC</i> Splicing Mutations Leading to In-Frame Exon 12 or Exon 13 Skipping Are Rare Events in FAP Pathogenesis and Define the Clinical Outcome

Familial adenomatous polyposis (FAP) is caused by germline mutations in the tumor suppressor gene <i>APC</i>. To date, nearly 2000 <i>APC</i> mutations have been described in FAP, most of which are predicted to result in truncated protein products. Mutations leading to aberra...

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Bibliographic Details
Main Authors: Vittoria Disciglio, Giovanna Forte, Candida Fasano, Paola Sanese, Martina Lepore Signorile, Katia De Marco, Valentina Grossi, Filomena Cariola, Cristiano Simone
Format: Article
Language:English
Published: MDPI AG 2021-02-01
Series:Genes
Subjects:
familial adenomatous polyposis
APC
splicing
exon skipping
FAP pathogenesis
Online Access:https://www.mdpi.com/2073-4425/12/3/353

Internet

https://www.mdpi.com/2073-4425/12/3/353

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