Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis

In ∼30% of families affected by colorectal adenomatous polyposis, no germline mutations have been identified in the previously implicated genes APC, MUTYH, POLE, POLD1, and NTHL1, although a hereditary etiology is likely. To uncover further genes with high-penetrance causative mutations, we performe...

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Publicado en:Am J Hum Genet
Autores principales: Adam, Ronja, Spier, Isabel, Zhao, Bixiao, Kloth, Michael, Marquez, Jonathan, Hinrichsen, Inga, Kirfel, Jutta, Tafazzoli, Aylar, Horpaopan, Sukanya, Uhlhaas, Siegfried, Stienen, Dietlinde, Friedrichs, Nicolaus, Altmüller, Janine, Laner, Andreas, Holzapfel, Stefanie, Peters, Sophia, Kayser, Katrin, Thiele, Holger, Holinski-Feder, Elke, Marra, Giancarlo, Kristiansen, Glen, Nöthen, Markus M., Büttner, Reinhard, Möslein, Gabriela, Betz, Regina C., Brieger, Angela, Lifton, Richard P., Aretz, Stefan
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2016
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4974087/
https://ncbi.nlm.nih.gov/pubmed/27476653
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.06.015
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