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Mutation Cluster Region, Association Between Germline and Somatic Mutations and Genotype-Phenotype Correlation in Upper Gastrointestinal Familial Adenomatous Polyposis

โœ Scribed by Christopher Groves; Hanan Lamlum; Michael Crabtree; Jill Williamson; Claire Taylor; Sylvia Bass; Darren Cuthbert-Heavens; Shirley Hodgson; Robin Phillips; Ian Tomlinson


Book ID
117021125
Publisher
American Society for Investigative Pathology
Year
2002
Tongue
English
Weight
349 KB
Volume
160
Category
Article
ISSN
0002-9440

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Mutations in the adenomatous polyposis coli (APC) gene are responsible for the disease familial adenomatous polyposis (FAP), a dominantly inherited predisposition to colorectal cancer. The most common extra-colonic manifestation is congenital hypertrophy of the retinal pigment epithelium (CHRPE), ex