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Different familial adenomatous polyposis phenotypes resulting from deletions of the entireAPCexon

✍ Scribed by Li-Kuo Su; Wendy Kohlmann; Patricia A. Ward; Patrick M. Lynch


Publisher
Springer
Year
2002
Tongue
English
Weight
178 KB
Volume
111
Category
Article
ISSN
0340-6717

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Causes of death were evaluated among 350 deceased patients with familial adenomatous polyposis (FAP) recorded in the Italian Polyposis Registry: 78.1% were due to colorectal cancer, 9.5% to extracolonic cancer (more than half of the upper gastrointestinal tract), 3.6% to desmoid tumors, and 8.8% to

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## Familial Adenomatous Polyposis (FAP) is an autosomal dominant heritable disorder caused by germ-line mutations in the APC gene. To date, more than 300 germ-line mutations within this gene have been described. Using PCR, SSCP and DNA sequencing, we have identified a new mutation in the alternativ