Article
Phenotypic expression in familial adenomatous polyposis: partial prediction by mutation analysis.
Gut - 1 Nov 1994
Nugent K P, Phillips R K, Hodgson S V, Cottrell S, Smith-Ravin J, Pack K, Bodmer W F
Abstract excerpt
The phenotypic expression in familial adenomatous polyposis (FAP) is variable. This study compares the phenotype of 27 patients with an identical 5 base pair (bp) deletion at codon 1309 with a group of 61 matched patients with FAP where knowledge of specific mutations is not available and with seven other different mutations in 24 subjects. Patients with the codon 1309 deletion have significantly more colorectal...
Topics
- Adenomatous Polyposis Coli
- Colon
- DNA Mutational Analysis
- Desmoid Tumors
- Gene Deletion
- Genes, APC
- Humans
- Mutation
- Phenotype