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Spectrum of SMARCB1/INI1 Mutations in Familial and Sporadic Rhabdoid Tumors

BACKGROUND: Germline mutations and deletions of SMARCB1/INI1 in chromosome band 22q11.2 predispose patients to rhabdoid tumor and schwannomatosis. Previous estimates suggested that 15–20% of rhabdoid tumors were caused by an underlying germline abnormality of SMARCB1. However, these studies were lim...

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Autors principals: Eaton, Katherine W., Tooke, Laura S., Wainwright, Luanne M., Judkins, Alexander R., Biegel, Jaclyn A.
Format: Artigo
Idioma:Inglês
Publicat: 2011
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3086793/
https://ncbi.nlm.nih.gov/pubmed/21108436
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/pbc.22831
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