Article
Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): a review of the literature.
Critical reviews in oncology/hematology - 1 Feb 2007
Nieuwenhuis M H, Vasen H F A
Abstract excerpt
Mutations in the adenomatous polyposis coli (APC) gene cause familial adenomatous polyposis (FAP). Disease severity and the presence of extracolonic manifestations seem to be correlated with the location of the mutation on the APC gene. In this review, large studies describing genotype-phenotype correlations in FAP were evaluated and categorized. Attenuated FAP (AFAP, <100 colorectal adenomas) is correlated with...
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