Germline mutations in the APC gene are responsible for familial adenomatous polyposis (FAP), a dominantly inherited syndrome characterized by the development of hundreds to thousands of polyps in the colon and in the rectum of affected individuals and by variable extracolonic manifestations (gastric
✦ LIBER ✦
Pathogenic mutations and rare variants of the APC gene identified in 75 Belgian patients with familial adenomatous polyposis by fluorescent enzymatic mutation detection (EMD)
✍ Scribed by Michils, Geneviève; Tejpar, Sabine; Fryns, Jean-Pierre; Legius, Eric; Van Cutsem, Eric; Cassiman, Jean-Jacques; Matthijs, Gert
- Book ID
- 110025246
- Publisher
- Nature Publishing Group
- Year
- 2002
- Tongue
- English
- Weight
- 92 KB
- Volume
- 10
- Category
- Article
- ISSN
- 1018-4813
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## Communicated by Victor A. McKusick Germline mutations of the adenomatous polyposis cold (APC) gene are responsible for familial adenomatous polyposis (FAP), an autosomal dominant predisposition to colorectal cancer. We screened the entire coding region of the APC gene for mutations in an unsele