Germline mutation of adenomatous polyposis coli gene in Chinese patients with familial adenomatous polyposis

• Published in: Zhonghua yi xue yi chuan xue za zhi Vol. 25; no. 2; p. 199
• Main Authors: Wang, Ting-ting, Chen, Sen-qing, Zhang, Xiao-mei
• Format: Journal Article
• Language: Chinese
• Published: China 01.04.2008
• Subjects: Adenomatous Polyposis Coli - genetics; Adult; Chromatography, High Pressure Liquid; Female; Genes, APC - physiology; Genetic Predisposition to Disease - genetics; Germ-Line Mutation; Humans; Male; Middle Aged; Pedigree

To explore the characteristics of adenomatous polyposis coli (APC) gene germline mutations in Chinese patients with familial adenomatous polyposis (FAP). Eighteen members from nine FAP pedigrees were studied by using multiplex ligation-dependent probe amplification(MLPA) to detect large fragment del...