Article
Genotype-phenotype correlations of new causative APC gene mutations in patients with familial adenomatous polyposis.
Journal of medical genetics - 1 Sept 1995
Bunyan D J, Shea-Simonds J, Reck A C, Finnis D, Eccles D M
Abstract excerpt
Nine new causative mutations and seven previously characterised mutations of the APC gene of patients with familial adenomatous polyposis (FAP) were analysed for any genotype-phenotype correlations. The only clear genotype-phenotype correlation found was between the position of the mutation site...
Topics
- Adenomatous Polyposis Coli
- Adolescent
- Adult
- Base Sequence
- DNA Mutational Analysis
- Genes, APC
- Genotype
- Humans
- Hypertrophy
- Middle Aged
- Molecular Sequence Data
- Mutation
- Phenotype
- Pigment Epithelium of Eye
- Polymerase Chain Reaction