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Article

Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis.

Clinical genetics - 1 May 2007

Nielsen M, Hes F J, Nagengast F M, Weiss M M, Mathus-Vliegen E M, Morreau H, Breuning M H, Wijnen J T, Tops C M J, Vasen H F A

Abstract excerpt

A small fraction of families with familial adenomatous polyposis (FAP) display an attenuated form of FAP (AFAP). We aimed to assess the presence of germline mutations in the MUTYH and adenomatous polyposis coli (APC) genes in AFAP families and to compare the clinical features between the two caus...

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Source

Identifiers

PMID: 17489848
DOI: 10.1111/j.1399-0004.2007.00766.x

Genes

APC
MUTYH
FAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17489848-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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