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Detection of large scale 3′ deletions in the PMS2 gene amongst Colon-CFR participants – have we been missing anything?

Current screening practices have been able to identify PMS2 mutations in 78% of cases of colorectal cancer from the Colorectal Cancer Family Registry (Colon CFR) which showed solitary loss of the PMS2 protein. However the detection of large-scale deletions in the 3′ end of the PMS2 gene has not been...

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Bibliografske podrobnosti
Main Authors: Clendenning, Mark, Walsh, Michael D, Gelpi, Judith Balmana, Thibodeau, Stephen N., Lindor, Noralane, Potter, John D., Newcomb, Polly, LeMarchand, Loic, Haile, Robert, Gallinger, Steve, Hopper, John L., Jenkins, Mark A., Rosty, Christophe, Young, Joanne P., Buchanan, Daniel D.
Format: Artigo
Jezik:Inglês
Izdano: 2013
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3639299/
https://ncbi.nlm.nih.gov/pubmed/23288611
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10689-012-9597-4
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