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Novel and reported APC germline mutations in Chinese patients with familial adenomatous polyposis.

Gene - 15 Feb 2016

Zhang Shujie, Qin Haisong, Lv Weigang, Luo Shiyu, Wang Jin, Fu Chunyun, Ma Ruiyu, Shen Yiping, Chen Shaoke, Wu Lingqian

Abstract excerpt

OBJECTIVE: Familial adenomatous polyposis (FAP) is mainly caused by germline mutations in the adenomatous polyposis coli (APC) gene. This study aimed to detect pathogenic variants in five Chinese FAP families and review all previously reported pathogenic variants of APC gene in Chinese population. METHODS: Five non-consanguineous FAP families and 100 unrelated ethnicity-matched controls were included in the...

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Source

Identifiers

PMID: 26625971
DOI: 10.1016/j.gene.2015.11.034

Genes

FAP
APC

Variants

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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