Article
Presymptomatic direct detection of adenomatous polyposis coli (APC) gene mutations in familial adenomatous polyposis.
Human genetics - 1 May 1993
Petersen G M, Francomano C, Kinzler K, Nakamura Y
Abstract excerpt
The recent identification of the familial adenomatous polyposis (FAP) gene (designated as APC) enables conclusive genetic testing of at-risk family members for the specific mutation in families in which the germline gene mutation has been characterized. Presymptomatic molecular diagnosis of FAP was performed by direct direction of mutations in lymphocyte DNA in four families. Each of the families has a different...
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