Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or “multiple” colorectal adenomas

Familial adenomatous polyposis (FAP) is a dominantly inherited colorectal tumor predisposition that results from germ-line mutations in the APC gene (chromosome 5q21). FAP shows substantial phenotypic variability: classical polyposis patients develop more than 100 colorectal adenomas, whereas those...

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Hauptverfasser: Sieber, O. M., Lamlum, H., Crabtree, M. D., Rowan, A. J., Barclay, E., Lipton, L., Hodgson, S., Thomas, H. J. W., Neale, K., Phillips, R. K. S., Farrington, S. M., Dunlop, M. G., Mueller, H. J., Bisgaard, M. L., Bulow, S., Fidalgo, P., Albuquerque, C., Scarano, M. I., Bodmer, W., Tomlinson, I. P. M., Heinimann, K.
Format: Artigo
Sprache:Inglês
Veröffentlicht: The National Academy of Sciences 2002
Schlagworte:
Biological Sciences
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC122454/
https://ncbi.nlm.nih.gov/pubmed/11867715
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.042699199
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