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The clinical phenotype of Lynch syndrome due to germline PMS2 mutations

BACKGROUND AND AIMS: Although the clinical phenotype of Lynch syndrome (also known as Hereditary Nonpolyposis Colorectal Cancer) has been well described, little is known about disease in PMS2 mutation carriers. Now that mutation detection methods can discern mutations in PMS2 from mutations in its p...

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Autors principals: Senter, Leigha, Clendenning, Mark, Sotamaa, Kaisa, Hampel, Heather, Green, Jane, Potter, John D., Lindblom, Annika, Lagerstedt, Kristina, Thibodeau, Stephen N., Lindor, Noralane M., Young, Joanne, Winship, Ingrid, Dowty, James G., White, Darren M., Hopper, John L., Baglietto, Laura, Jenkins, Mark A., de la Chapelle, Albert
Format: Artigo
Idioma:Inglês
Publicat: 2008
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2759321/
https://ncbi.nlm.nih.gov/pubmed/18602922
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1053/j.gastro.2008.04.026
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