Article
Novel germline APC gene mutation in a large familial adenomatous polyposis kindred displaying variable phenotypes.
Gut - 1 May 1995
Scott R J, van der Luijt R, Spycher M, Mary J L, Müller A, Hoppeler T, Haner M, Müller H, Martinoli S, Brazzola P L
Abstract excerpt
The APC gene is mutated in the germline of people from families where there is a predisposition to develop polyposis coli. Many mutations have been described but the relation between their site and the phenotypic expression of the disease remains unclear. The most commonly seen mutation occurs at...
Topics
- Adenomatous Polyposis Coli
- Age of Onset
- Aged
- Base Sequence
- Child
- Child, Preschool
- Disease Susceptibility
- Exons
- Female
- Genes, APC
- Germ-Line Mutation
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Pedigree