Mutational screening of the apc gene in chilean families with familial adenomatous polyposis: nine novel truncating mutations
作者： Marjorie K. De la Fuente , Karin P. Alvarez , Alejandro J. Letelier , Felipe Bellolio , Mariana L. Acuña
DOI: 10.1007/S10350-007-9044-Z
关键词:
摘要: Purpose Familial adenomatous polyposis is characterized by the development of hundreds polyps located mainly in colon and rectum. Patients with familial who do not receive treatment will develop cancer before aged 40 years. This disease caused germline mutations coli gene. Different studies have shown a correlation between location mutation clinical phenotype, such as grade severity and/or presence extracolonic manifestations, desmoid tumors. study was designed to identify gene Chilean families polyposis.
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