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Article

[Homozygous germline mutation in MUTYH gene in familial adenomatous polyposis].

Revista medica de Chile - 1 Nov 2012

Alvarez Karin, Fuente Marjorie de la, Orellana Paulina, Wielandt Ana María, Heine Claudio, Suazo Cristóbal, Kronberg Udo, Carvallo Pilar, López-Köstner Francisco

Abstract excerpt

Recently, MUTYH mutations have been reported to predispose to the development of polyposis. However, polyposis caused by mutations in MUTYH has been characterized as an autosomal recessive hereditary disease, different from the autosomal dominant pattern observed in polyposis caused by APC mutations. We report a 41-year-old female consulting for anemia. Colonoscopy detected multiple sessile polyps and a cecal...

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Share to Adenomatous Polyposis Coli
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to MUTYH gene

Share to Genetic Predisposition to Disease

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Source

Identifiers

PMID: 23677194
DOI: 10.4067/S0034-98872012001100013

Genes

MUTYH
APC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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[Homozygous germline mutation in MUTYH gene in familial adenomatous polyposis].PMID 23677194Read ↗

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