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Current Protocols in Human Genetics || Detecting Mutations in the APC Gene in Familial Adenomatous Polyposis (FAP)

✍ Scribed by Haines, Jonathan L.; Korf, Bruce R.; Morton, Cynthia C.; Seidman, Christine E.; Seidman, J.G.; Smith, Douglas R.


Book ID
120048285
Publisher
Wiley (John Wiley & Sons)
Year
2006
Tongue
English
Weight
335 KB
Volume
50
Category
Article
ISBN-13
9780471142904
ISSN
1934-8266

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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

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## 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