Article
Characterization of two novel adenomatous polyposis coli (APC) gene mutations in patients with familial adenomatous polyposis (FAP).
Human mutation - 1 Jan 1994
Bapat B, Berk T, Mitri A, Cohen Z, Gallinger S, Stern H
Abstract excerpt
Patients with Familial Adenomatous Polyposis (FAP) manifest numerous colorectal adenomas as well as benign and malignant extra-colonic lesions. Adenomatous polyposis coli (APC) gene mutations are the underlying genetic defect in FAP. We analyzed germline DNA of 81 unrelated FAP patients and evaluated correlation of APC mutation genotype and clinical phenotype. Germline APC mutations were identified in 18 FAP...
Topics
- Adenomatous Polyposis Coli
- Base Sequence
- DNA Mutational Analysis
- DNA, Neoplasm
- Genes, APC
- Humans
- Molecular Sequence Data
- Mutation
- Sequence Deletion