Article
The mutation spectrum of the APC gene in FAP patients from southern Italy: detection of known and four novel mutations.
Human mutation - 1 Jun 2003
De Rosa Marina, Scarano Maria I, Panariello Luigi, Morelli Gemma, Riegler Gabriele, Rossi Giovanni B, Tempesta Alfonso, Romano Giovanni, Renda Andrea, Pettinato Guido, Izzo Paola
Abstract excerpt
Familial adenomatous polyposis (FAP), an autosomal dominantly inherited condition accounting for about 1% of all colorectal cancers, results from mutations in the adenomatous polyposis coli (APC) tumor suppressor gene. The clinical spectrum and severity of FAP varies greatly with the mutation site, and both between and within families. Using the protein truncation test, single strand conformation polymorphism...
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