Germline versus somatic mutations of the APC gene: Evidence for mechanistic differences

Screening for mutations of the APC gene

Screening for mutations of the APC gene in 66 Italian familial adenomatous polyposis patients: Evidence for phenotypic differences in cases with and without identified mutation

✍ Monica Giarola; Lisa Stagi; Silvano Presciuttini; Patrizia Mondini; Maria T. Rad 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 313 KB 👁 2 views

Germline mutations in the APC gene are responsible for familial adenomatous polyposis (FAP), a dominantly inherited syndrome characterized by the development of hundreds to thousands of polyps in the colon and in the rectum of affected individuals and by variable extracolonic manifestations (gastric