Germline Nonsense Mutation and Somatic Inactivation of SMARCA4/BRG1 in a Family with Rhabdoid Tumor Predisposition Syndrome

Rhabdoid tumors of early infancy are highly aggressive with consequent poor prognosis. Most cases show inactivation of the SMARCB1 (also known as INI1 and hSNF5) tumor suppressor, a core member of the ATP-dependent SWI/SNF chromatin-remodeling complex. Familial cases, described as rhabdoid tumor pre...

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Hauptverfasser: Schneppenheim, Reinhard, Frühwald, Michael C., Gesk, Stefan, Hasselblatt, Martin, Jeibmann, Astrid, Kordes, Uwe, Kreuz, Markus, Leuschner, Ivo, Subero, Jose Ignacio Martin, Obser, Tobias, Oyen, Florian, Vater, Inga, Siebert, Reiner
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2010
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2820190/
https://ncbi.nlm.nih.gov/pubmed/20137775
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.01.013
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