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Article

A novel pathogenic single nucleotide germline deletion in APC gene in a four generation Chinese family with familial adenomatous polyposis.

Scientific reports - 27 Sept 2017

Zhang Zhao, Liang Shengyun, Wang Dan, Liang Shengran, Li Yuwei, Wang Bingjie, Jiang Tao, Zhao Guoru, Zhang Xipeng, Banerjee Santasree

Abstract excerpt

Familial adenomatous polyposis (FAP) is an autosomal dominant precancerous condition which is associated with germline mutations of the APC gene. Clinically, FAP is characterized by the development of multiple colorectal adenomas or polyps which finally result in colorectal cancer by the 40 years age of the patient, if no surgical interventions have been undertaken. In this study, we present a clinical molecular...

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

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Source

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Identifiers

PMID: 28955048
DOI: 10.1038/s41598-017-10395-x
PMCID: PMC5617841

Genes

FAP
APC

Variants

Provenance

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