Article
Profuse familial adenomatous polyposis with an adenomatous polyposis coli exon 3 mutation.
Familial cancer - 1 Jan 2001
Nasioulas S, Jones I T, St John D J, Scott R J, Forrest S M, McKinlay Gardner R J
Abstract excerpt
The attenuated form of familial adenomatous polyposis coli (AAPC) is associated with mutations in the adenomatous polyposis coli (APC) gene which cluster in the 5' region of the gene. It has been proposed that a 'genotype-phenotype boundary' exists at codons 159-163, and mutations that are 5' of this boundary will produce AAPC. Herein we document a three-generation family with an exon 3 mutation well to the 5'...
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