Article
Characterization of APC exon 15 germ-line mutation in FAP family with severe phenotype showing extracolonic symptoms.
Neoplasma - 1 Jan 1999
Kirchhoff T, Kulcsár L, Tomka M, Stevurková V, Zajac V
Abstract excerpt
The adenomatous polyposis coli (APC) gene plays a crucial role in colorectal carcinogenesis. Germ-line mutations of APC gene give rise to familial adenomatous polyposis coli (FAP) - autosomal dominant syndrome manifesting hundreds to thousands of colorectal polyps, if untreated with malignant progression. We have used the techniques of heteroduplex analysis (HDA), protein truncation test (PTT), single strand...
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