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SMARCAL1 deficiency predisposes to non‐Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo

7 Aug 2012

Abstract excerpt

Schimke immuno-osseous dysplasia (SIOD) is a multisystemic disorder with prominent skeletal, renal, immunological, and ectodermal abnormalities. It is caused by mutations of SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1), which encodes a DNA stress response protein. To determine the relationship of this function to the SIOD phenotype, we profiled the...

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PMID: 22888040
DOI: 10.1002/ajmg.a.35532

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