Germline mutations in the 3' part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli.

doi:10.1007/s004390050293

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Article

Germline mutations in the 3' part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli.

Human genetics - 1 Dec 1996

van der Luijt R B, Meera Khan P, Vasen H F, Breukel C, Tops C M, Scott R J, Fodde R

Abstract excerpt

Familial adenomatous polyposis (FAP) is an inherited predisposition to colorectal cancer characterized by the development of numerous adenomatous polyps predominantly in the colorectal region. Germline mutations in the adenomatous polyposis coli (APC) gene are responsible for most cases of FAP. M...

Topics

Adenomatous Polyposis Coli
Adult
Aged
Aged, 80 and over
DNA Mutational Analysis
Exons
Female
Germ-Line Mutation
Humans
Male
Middle Aged
Pedigree
Phenotype

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