Article
Attenuated familial adenomatous polyposis due to a mutation in the 3' part of the APC gene. A clue for understanding the function of the APC protein.
Human genetics - 1 May 1996
Friedl W, Meuschel S, Caspari R, Lamberti C, Krieger S, Sengteller M, Propping P
Abstract excerpt
The identification of germline mutations in a large number of clinically well-characterised patients with familial adenomatous polyposis (FAP) has allowed the unravelling of several genotype-phenotype relationships that can now be interpreted in the light of the structure and functional domains o...
Topics
- Adenomatous Polyposis Coli
- Adult
- Age of Onset
- Aged
- Base Sequence
- Codon
- Colon
- DNA
- DNA, Satellite
- Female
- Genes, APC
- Genetic Markers
- Genotype
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation