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Article

[A case of attenuated familial adenomatous polyposis coli (AFAP)].

Zeitschrift fur Gastroenterologie - 1 Jun 2005

Gentner B, Kraus C, Schwab D, Benninger J, Wein A, Hahn E G, Brueckl W M

Abstract excerpt

We describe an asymptomatic female patient who was diagnosed with multiple tubular and tubulovillous adenomas in the right-sided colon on routine colonoscopy at the age of 59 years. Genetic testing identified a germline truncating mutation at codon 405 (R405X) of the adenomatous polyposis coli (APC) gene. This mutation is located in the alternatively spliced region of exon 9, a region that is associated with an...

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Identifiers

PMID: 15986289
DOI: 10.1055/s-2005-858007

Genes

APC

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