Mutational Screening of theAPCGene in Chilean Families with Familial Adenomatous Polyposis: Nine Novel Truncating Mutations
✍ Scribed by Marjorie K. De la Fuente; Karin P. Alvarez; Alejandro J. Letelier; Felipe Bellolio; Mariana L. Acuña; Francisca S. León; Eliana Pinto; Pilar Carvallo; Francisco López-Köstner
- Publisher
- Springer
- Year
- 2007
- Tongue
- English
- Weight
- 237 KB
- Volume
- 50
- Category
- Article
- ISSN
- 0012-3706
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
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 D N A of 81 unrelated FAP patients and evalua
## Development of one hundred or more adenomas in the colon and rectum is diagnostic for the dominantly inherited, autosomal disease Familial Adenomatous Polyposis (FAP). It is possible to identify a mutation in the Adenomatous Polyposis Coli (APC) gene in approximately 80% of the patients, and alm