Large intron 14 rearrangement in APC results in splice defect and attenuated FAP

Familial Adenomatous Polyposis (FAP [OMIM 175100]) is an autosomal dominant colorectal cancer predisposition syndrome characterized by hundreds to thousands of colonic polyps and, if untreated by a combination of screening and/or surgical intervention, a ~99% lifetime risk of colorectal cancer. A su...

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Main Authors: Tuohy, Thérèse M.F., Done, Michelle W., Lewandowski, Michelle S., Shires, Patricia M., Saraiya, Devki S., Huang, Sherry C., Neklason, Deborah W., Burt, Randall W.
Format: Artigo
Jezik:Inglês
Izdano: 2009
Teme:
Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3159508/
https://ncbi.nlm.nih.gov/pubmed/20033212
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-009-0776-9
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