Variable phenotype of familial adenomatous polyposis in pedigrees with 3′ mutation in the APC gene
✍ Scribed by Brensinger, JD; Laken, SJ; Luce, MC; Powell, SM; Vance, GH; Ahnen, DJ; Petersen, GM; Hamilton, SR; Giardiello, FM
- Book ID
- 122460771
- Publisher
- Elsevier Science
- Year
- 1998
- Tongue
- English
- Weight
- 155 KB
- Volume
- 114
- Category
- Article
- ISSN
- 0016-5085
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📜 SIMILAR VOLUMES
## 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
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