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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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Bibliographische Detailangaben
Hauptverfasser: Bisgaard, M L, Ripa, R, Knudsen, A L, Bülow, S
Format: Artigo
Sprache:Inglês
Veröffentlicht: Copyright 2004 by Gut 2004
Schlagworte:
Online Zugang: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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