Analysis of genotype-phenotype correlations in familial adenomatous polyposis (FAP) patients demonstrated that the phenotypic heterogeneity of FAP is partly related to the mutation site. We investigated the molecular basis for the difference in severity of colorectal disease observed comparing FAP p
The Spectrum of APC Mutations in Children with Hepatoblastoma from Familial Adenomatous Polyposis Kindreds
β Scribed by Barbara A. Hirschman; Brad H. Pollock; Gail E. Tomlinson
- Book ID
- 116683376
- Publisher
- Elsevier Science
- Year
- 2005
- Tongue
- English
- Weight
- 159 KB
- Volume
- 147
- Category
- Article
- ISSN
- 1097-6833
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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
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