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APC promoter 1B deletion in familial polyposis—implications for mutation‐negative families

31 May 2013

Abstract excerpt

Over 1500 adenomatous polyposis coli (APC) gene mutations have already been identified as causative of familial adenomatous polyposis (FAP). However, routine genetic testing fails to detect mutations in about 10% of classic FAP cases. Recently, it has been shown that a proportion of mutation-negative FAP cases bear molecular changes in deep intronic and regulatory sequences. In this study, we used direct...

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PMID: 23725351
DOI: 10.1111/cge.12210

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