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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書誌詳細
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: Elsevier 2010
主題:
Report
オンライン･アクセス: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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