Familial adenomatous polyposis coli: Five novel mutations in exon 15 of the adenomatous polyposis coli (APC) gene in Italian patients

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منابع مشابه

Novel germline mutations in the adenomatous polyposis coli gene in Polish families with familial adenomatous polyposis.

A Plawski, J Lubiński, T Banasiewicz, J Paszkowski, D Lipinski, A Strembalska, G Kurzawski, T Byrski, S Zajaczek, D Hodorowicz-Zaniewska, T Gach, I Brozek, D Nowakowska, E Czkwaniec, P Krokowicz, M Drews, J Zeyland, W Juzwa, R Słomski . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ...

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Familial adenomatous polyposis coli.

The other mode of treating these patients are subtotal colectomy with ileorectal anastomosis alongwith regular follow up with proctoscopy for development of cancer in retained rectal mucosa(3,7). Recently, Stevan et al. (8) utilized laproscope for total proctocolectomy as well as ileoanal anostomosis while others performed ileopouch anal anastomosis alongwith total proctocolectomy(9,10). Thus t...

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ONLINE MUTATION REPORT Novel germline mutations in the adenomatous polyposis coli gene in Polish families with familial adenomatous polyposis

A Plawski, J Lubiński, T Banasiewicz, J Paszkowski, D Lipinski, A Strembalska, G Kurzawski, T Byrski, S Zajaczek, D Hodorowicz-Zaniewska, T Gach, I Brozek, D Nowakowska, E Czkwaniec, P Krokowicz, M Drews, J Zeyland, W Juzwa, R Słomski . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ...

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Adenomatous polyposis coli (APC): a multi-functional tumor suppressor gene.

The adenomatous polyposis coli (APC) gene is a key tumor suppressor gene. Mutations in the gene have been found not only in most colon cancers but also in some other cancers, such as those of the liver. The APC gene product is a 312 kDa protein that has multiple domains, through which it binds to various proteins, including beta-catenin, axin, CtBP, Asefs, IQGAP1, EB1 and microtubules. Studies ...

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ژورنال

عنوان ژورنال: Human Mutation

سال: 1999

ISSN: 1059-7794,1098-1004

DOI: 10.1002/(sici)1098-1004(1999)13:3<256::aid-humu13>3.0.co;2-j