Article
Screening for germ-line mutations in familial adenomatous polyposis patients: 61 new patients and a summary of 150 unrelated patients.
Human mutation - 1 Jan 1992
Nagase H, Miyoshi Y, Horii A, Aoki T, Petersen G M, Vogelstein B, Maher E, Ogawa M, Maruyama M, Utsunomiya J
Abstract excerpt
We report here the result of a screening for germ-line mutations in the adenomatous polyposis coli (APC) gene in 61 new familial adenomatous polyposis (FAP) patients as well as a summary of the results of 150 patients. Examination of the entire coding region of the APC gene, based on a ribonuclease protection assay coupled with the polymerase chain reaction (PCR), disclosed mutations that were considered to cause...
Topics
- Adenomatous Polyposis Coli
- Base Sequence
- DNA
- DNA Mutational Analysis
- Germ Cells
- Humans
- Molecular Sequence Data
- Phenotype
- Polymorphism, Genetic