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

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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Detalhes bibliográficos
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
Formato: Journal article
Idioma:English
Publicado em: 2006

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