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Familial adenomatous polyposis: Identification of a new frameshift mutation of the APC gene in an Italian family

✍ Scribed by Alessandro Stella; Angelo Lonoce; Nicoletta Resta; Mattia Gentile; Francesco Susca; Cristina Mareni; Giuseppina Brescia; Paola Origoni; Maria Pina Montero; Ginevra Guanti


Book ID
117054802
Publisher
Elsevier Science
Year
1992
Tongue
English
Weight
697 KB
Volume
184
Category
Article
ISSN
0006-291X

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πŸ“œ SIMILAR VOLUMES


Familial adenomatous polyposis coli: Fiv
✍ Maria I. Scarano; Marina De Rosa; Luigi Panariello; Nicola Carlomagno; Gabriele πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 74 KB πŸ‘ 2 views

## Germline mutations within the adenomatous polyposis coli (APC ) gene, a tumor suppressor gene, are responsible for most cases of familial adenomatous polyposis (FAP), an autosomal dominantly inherited predisposition to colorectal cancer. To date, more than 300 germ-line causative mutations with

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✍ Marie Luise Bisgaard; RASMUS S. Ripa; Steffen BΓΌlow πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 26 KB πŸ‘ 2 views

## Development of one hundred or more adenomas in the colon and rectum is diagnostic for the dominantly inherited, autosomal disease Familial Adenomatous Polyposis (FAP). It is possible to identify a mutation in the Adenomatous Polyposis Coli (APC) gene in approximately 80% of the patients, and alm