familial adenomatous polyposis

نتایج جستجو برای: familial adenomatous polyposis

تعداد نتایج: 64354 فیلتر نتایج به سال:

Nontruncating APC germ-line mutations and mismatch repair deficiency play a minor role in APC mutation-negative polyposis.

Journal: :Cancer research 2001

K Heinimann A Thompson A Locher T Furlanetto E Bader A Wolf R Meier K Walter P Bauerfeind G Marra H Müller D Foernzler Z Dobbie

Familial adenomatous polyposis, an autosomal-dominantly inherited colorectal cancer predisposition syndrome, is caused by germ-line mutations in the adenomatous polyposis coli (APC) gene. Despite the use of different screening methods, studies worldwide fail to identify APC mutations in 20-50% of all familial adenomatous polyposis patients (APC mutation-negatives). In this study, missense mutat...

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