De novo mutations in familial adenomatous polyposis (FAP)
β Scribed by Ripa, R; Bisgaard, M L; Bulow, S; Nielsen, F C
- Book ID
- 110025324
- Publisher
- Nature Publishing Group
- Year
- 2002
- Tongue
- English
- Weight
- 87 KB
- Volume
- 10
- Category
- Article
- ISSN
- 1018-4813
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The nationwide Danish polyposis register includes all known Danish cases of familial adenomatous polyposis (FAP) and their relatives. By identifying all FAP patients born between 1920 and 1949, we found the frequency of the disease to be 1 in 13,528. By comparing the number of affected and nonaffect
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