Genetic diagnosis of familial adenomatous polyposis: detection of APC gene mutations based on an in vitro synthetized protein

Familial adenomatous polyposis of the colon (FAP) is a dominant autosomic disease in which virtually 100% of the affected individuals develop colorectal cancer before the age of forty. The gene responsible for this disease (APC gene) is mutated in the germ line of these patients. The genetic diagnos...

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Veröffentlicht in:Acta médica portuguesa 1998-01, Vol.11 (1), p.25-32
Hauptverfasser: Albuquerque, C, Fidalgo, P, Chagas, C, Suspiro, A, Cravo, M, Ramalho, E, Leitão, C N, Mira, F C
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Sprache:por
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