Article
Correlation between the development of extracolonic manifestations in FAP patients and mutations beyond codon 1403 in the APC gene.
Journal of medical genetics - 1 Apr 1996
Dobbie Z, Spycher M, Mary J L, Häner M, Guldenschuh I, Hürliman R, Amman R, Roth J, Müller H, Scott R J
Abstract excerpt
The APC gene was investigated in 31 unrelated polyposis coli families by SSCP analysis and the protein truncation test. Twenty-three germline mutations were identified which gave rise to a variety of different phenotypes. Some of these mutations have already been described; however we report six...
Topics
- Adenomatous Polyposis Coli
- Adolescent
- Adult
- Chromosome Mapping
- Codon
- Electrophoresis, Polyacrylamide Gel
- Female
- Humans
- Male
- Middle Aged
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational