Article
Phenotypic differences in familial adenomatous polyposis based on APC gene mutation status.
Gut - 1 Nov 1998
Heinimann K, Müllhaupt B, Weber W, Attenhofer M, Scott R J, Fried M, Martinoli S, Müller H, Dobbie Z
Abstract excerpt
BACKGROUND: Familial adenomatous polyposis (FAP) is a clinically well defined hereditary disease caused by germline mutations within the adenomatous polyposis coli (APC) gene. Although several techniques are applied in the mutation analysis of FAP kindreds about 20-50% of cases remain unclear, wi...
Topics
- Adenomatous Polyposis Coli
- Adolescent
- Adult
- Age of Onset
- Aged
- Child
- Female
- Genes, APC
- Humans
- Male
- Middle Aged
- Mutation
- Neoplasms, Second Primary
- Pedigree
- Phenotype
- Switzerland