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[A novel APC gene germline mutation in a familial adenomatous polyposis pedigree].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 2006

Zhou Jian-nong, Chen Sen-qing, Zhang Xiao-mei, Zhou Xin, Zhu Ming, Feng Bo, Li Jin-tian, Ma Guo-jian, Zhang Yuan-ying

Abstract excerpt

OBJECTIVE: To detect the adenomatous polyposis coli (APC) gene germline mutation in the proband and her family members with familial adenomatous polyposis (FAP). METHODS: The diagnosis of a patient with FAP was validated by colonoscopy, pathology and the family history. The systematic screening with multiplex ligation-dependent probe amplification (MLPA), denaturing high-performance liquid chromatography (DHPLC)...

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Share to Adenomatous Polyposis Coli
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16883523

Genes

APC
FAP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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