Article
Frequency of common and novel inactivating APC mutations in 202 families with familial adenomatous polyposis.
Human molecular genetics - 1 Jan 1994
Mandl M, Paffenholz R, Friedl W, Caspari R, Sengteller M, Propping P
Abstract excerpt
In the course of presymptomatic diagnosis in families with familial adenomatous polyposis (FAP) we screened 202 unrelated patients for mutations in the APC gene. Germ-line mutations were identified in 20.8% of the index patients by a single step screening procedure based on heteroduplex analysis...
Topics
- Adenomatous Polyposis Coli
- Base Sequence
- Child
- DNA, Neoplasm
- Exons
- Female
- Genes, APC
- Genetic Variation
- Humans
- Male
- Molecular Sequence Data
- Nucleic Acid Heteroduplexes
- Pedigree
- Point Mutation