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Expression of SMARCB1 (INI1) mutations in familial schwannomatosis

Genetic changes in the SMARCB1 tumor suppressor gene have recently been reported in tumors and blood from families with schwannomatosis. Exon scanning of all nine SMARCB1 exons in genomic DNA from our cohort of families meeting the criteria for ‘definite’ or ‘presumptive’ schwannomatosis previously...

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Autors principals: Smith, Miriam J., Walker, James A., Shen, Yiping, Stemmer-Rachamimov, Anat, Gusella, James F., Plotkin, Scott R.
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2012
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3510754/
https://ncbi.nlm.nih.gov/pubmed/22949514
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds370
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