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Two Chinese pedigrees for adenomatous polyposis coli: new mutations at codon 1309 and predisposition to phenotypic variations.

Familial cancer - 1 Sept 2014

Liao Dai-Xiang, Li Bing, Du Xue-Mei, Yu Jun-Hui, Chang Hong, Wu Zhi-Qiang, Hao Hao-Jie, Wang You-Xin, Han Wei-Dong, Cheng Shu-Jun, Luo Cheng-Hua

Abstract excerpt

Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disease caused by a mutation in the adenomatous polyposis coli (APC) gene. Some studies have attempted to correlate mutations at codon 1309 with classic FAP (≥100 colorectal polyps). We report two Chinese FAP pedigrees with new frameshift mutations at codon 1309, in which affected individuals manifest phenotypic variations. Comprehensive...

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PMID: 24664542
DOI: 10.1007/s10689-014-9713-8

Genes

FAP
APC
MUTYH

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

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