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

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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 several regions and domains for interaction with other proteins, and specific clinical manifestations are associated with the mutation assignment to one of these regions or domains.
OriginalsprogEngelsk
TidsskriftGut
Vol/bind53
Udgave nummer2
Sider (fra-til)266-70
Antal sider5
ISSN0017-5749
StatusUdgivet - feb. 2004
Eksternt udgivetJa

ID: 47744744