Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly but depend on the site of the germline mutation.

BACKGROUND: Attenuated familial adenomatous polyposis (AFAP) is associated with germline mutations in the 5', 3', and exon 9 of the adenomatous polyposis coli (APC) gene. These mutations probably encode a limited amount of functional APC protein. METHODS AND RESULTS: We found that colonic...

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Bibliographic Details
Main Authors: Sieber, O, Segditsas, S, Knudsen, A, Zhang, J, Luz, J, Rowan, A, Spain, S, Thirlwell, C, Howarth, K, Jaeger, E, Robinson, J, Volikos, E, Silver, A, Kelly, G, Aretz, S, Frayling, I, Hutter, P, Dunlop, M, Guenther, T, Neale, K, Phillips, R, Heinimann, K, Tomlinson, I
Format: Journal article
Language:English
Published: 2006