APC 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 APC. To date, nearly 2000 APC mutations have been described in FAP, most of which are predicted to result in truncated protein products. Mutations leading to aberrant APC splicing have rarely been repor...

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Detalles Bibliográficos
Autores principales: Disciglio, Vittoria, Forte, Giovanna, Fasano, Candida, Sanese, Paola, Lepore Signorile, Martina, De Marco, Katia, Grossi, Valentina, Cariola, Filomena, Simone, Cristiano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7997234/
https://www.ncbi.nlm.nih.gov/pubmed/33670833
http://dx.doi.org/10.3390/genes12030353

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7997234/
https://www.ncbi.nlm.nih.gov/pubmed/33670833
http://dx.doi.org/10.3390/genes12030353

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