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Article

Alterations in the <i>SMARCB1 </i>(<i>INI1</i>) tumor suppressor gene in familial schwannomatosis

16 Sept 2008

Abstract excerpt

Schwannomatosis is a third major form of neurofibromatosis that has recently been linked to mutations in the SMARCB1 (hSnf5/INI1) tumor suppressor gene. We analyzed the coding region of SMARCB1 by direct sequencing and multiplex ligation-dependent probe amplification (MLPA) in genomic DNA from 19 schwannomatosis kindreds. Microsatellite markers in the SMARCB1 region were developed to determine loss of...

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PMID: 18647326
DOI: 10.1111/j.1399-0004.2008.01060.x

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