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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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Bibliografiset tiedot
Päätekijät: Bisgaard, M L, Ripa, R, Knudsen, A L, Bülow, S
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Copyright 2004 by Gut 2004
Aiheet:
Linkit: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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