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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Genes (Basel)
Egile Nagusiak: Disciglio, Vittoria, Forte, Giovanna, Fasano, Candida, Sanese, Paola, Lepore Signorile, Martina, De Marco, Katia, Grossi, Valentina, Cariola, Filomena, Simone, Cristiano
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: MDPI 2021
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC7997234/
https://ncbi.nlm.nih.gov/pubmed/33670833
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes12030353
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