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Clinical characterization and mutation spectrum in patients with familial adenomatous polyposis in China

7 May 2019

Abstract excerpt

BACKGROUND AND AIM: Familial adenomatous polyposis (FAP) is the most common adenomatous polyposis syndrome. Patients with FAP are screened for germline mutations of two genes, APC and MUTYH. However, limited data exist on the clinical characterization and genotypic spectrum of FAP in China. This study was aimed to determine APC and MUTYH mutational status in a small cohort of FAP probands in China and to...

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PMID: 31062380
DOI: 10.1111/jgh.14704

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