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A germline mutation at the extreme 3′ end of the APC gene results in a severe desmoid phenotype and is associated with overexpression of beta-catenin in the desmoid tumor.
- Published in:
- Clinical Genetics, 2000, v. 57, n. 3, p. 205, doi. 10.1034/j.1399-0004.2000.570306.x
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- Publication type:
- Article
A large novel deletion in the APC promoter region causes gene silencing and leads to classical familial adenomatous polyposis in a Manitoba Mennonite kindred.
- Published in:
- Human Genetics, 2008, v. 124, n. 5, p. 535, doi. 10.1007/s00439-008-0579-4
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- Publication type:
- Article
Characterization of two novel adenomatous polyposis coli ( APC) gene mutations in patients with familial adenomatous polyposis (FAP).
- Published in:
- Human Mutation, 1994, v. 4, n. 4, p. 253, doi. 10.1002/humu.1380040404
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- Publication type:
- Article
Mismatch repair gene defects contribute to the genetic basis of double primary cancers of the colorectum and endometrium.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 5, p. 823, doi. 10.1093/hmg/8.5.823
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- Publication type:
- Article