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Familial adenomatous polyposis patients without an identified APC germline mutation have a severe phenotype

Background: Development of more than 100 colorectal adenomas is diagnostic of the dominantly inherited autosomal disease familial adenomatous polyposis (FAP). Germline mutations can be identified in the adenomatous polyposis coli (APC) gene in approximately 80% of patients. The APC protein comprises...

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書誌詳細
主要な著者: Bisgaard, M L, Ripa, R, Knudsen, A L, Bülow, S
フォーマット: Artigo
言語:Inglês
出版事項: Copyright 2004 by Gut 2004
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1774914/
https://ncbi.nlm.nih.gov/pubmed/14724162
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/gut.2003.019042
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