Article
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.
Human mutation - 1 Jan 1999
Giarola M, Stagi L, Presciuttini S, Mondini P, Radice M T, Sala P, Pierotti M A, Bertario L, Radice P
Abstract excerpt
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 and duodenal polyps, osteomas, retinal lesions, and desmoid tumors). Through the combined use of single-strand...
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