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Screening for mutations of the adenomatous polynosis coli (APC) gene in 67 Italian familial adenomatous polyposis: Further evidence of complex genotype-phenotype correlations

✍ Scribed by Bertario, L.; Giarola, M.; Stagi, L.; Presciuttini, S.; Mondini, P.; Sala, P.; Eboli, M.; Pierotti, M.A.; Radice, P.


Book ID
122846478
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
179 KB
Volume
114
Category
Article
ISSN
0016-5085

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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

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## Abstract ## BACKGROUND The authors previously found the I1307K adenomatous polyposis coli (__APC__) gene variant in 5% of Ashkenazi control participants, in 15.4% of those who had familial colorectal neoplasia, but also in 1.6% of non‐Ashkenazi control participants. In this study, they evaluate