Article
Novel mutations in the APC gene and clinical features in Swedish patients with polyposis coli.
Anticancer research - 1 Jan 2000
Nordling M, Engwall Y, Wahlström J, Wiklund L, Eriksson M A, Gustavsson B, Fasth S, Larsson P A, Martinsson T
Abstract excerpt
The adenomatous polyposis coli (APC) gene was investigated in Swedish patients with familial adenomatous polyposis (FAP). A combination of analyses including single stranded conformation polymorphism (SSCP), heteroduplex (HD), protein truncation test (PTT) and direct sequencing was used to enable optimal mutation detection. Three novel mutations in the gene were identified, i.e. nt2644C- > T (giving an Arg876Stop...
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