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- Title
Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly but depend on the site of the germline mutation.
- Authors
Sieber, O M; Segditsas, S; Knudsen, A L; Zhang, J; Luz, J; Rowan, A J; Spain, S L; Thirlwell, C; Howarth, K M; Jaeger, E E M; 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 P M
- Abstract
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.
- Publication
Gut, 2006, Vol 55, Issue 10, p1440
- ISSN
1468-3288
- Publication type
Journal Article
- DOI
10.1136/gut.2005.087106