Article
A novel APC mutation identified in a large Chinese family with familial adenomatous polyposis and a brief literature review.
Molecular medicine reports - 1 Aug 2018
Pang Minghui, Liu Yijun, Hou Xiaolin, Yang Jialiang, He Xuelai, Hou Nengyi, Liu Peixi, Liang Luo, Fu Junwen, Wang Kang, Ye Zimeng, Gong Bo
Abstract excerpt
Familial adenomatous polyposis (FAP), an autosomal dominant disease, is a colon cancer predisposition syndrome that manifests as a large number of adenomatous polyps. Mutations in the Adenomatous polyposis coli (APC) gene are responsible for the majority of cases of FAP. The purpose of the present study was to report the clinical features of a Chinese family with FAP and screen for novel mutations using the...
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