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Article

Expression of SMARCB1 (INI1) mutations in familial schwannomatosis.

Human molecular genetics - 15 Dec 2012

Smith Miriam J, Walker James A, Shen Yiping, Stemmer-Rachamimov Anat, Gusella James F, Plotkin Scott R

Abstract excerpt

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 revealed constitutional alterations in 13 of 19 families (68%). Screening of four new familial schwannomatosis...

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Identifiers

PMID: 22949514
DOI: 10.1093/hmg/dds370
PMCID: PMC3510754

Genes

SMARCB1

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Expression of SMARCB1 (INI1) mutations in familial schwannomatosis.PMID 22949514Read ↗

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