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Oxford University Press

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Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM

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Molecular Genetics & Genomic Medicine, Vol. 4, Iss. 1, 2016-01 ,pp. : 106-119

John Wiley & Sons Inc

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SALL1, the gene mutated in Townes–Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin

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Intra-nuclear trafficking of the BLM helicase to DNA damage-induced foci is regulated by SUMO modification

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Human Molecular Genetics, Vol. 14, Iss. 10, 2005-05 ,pp. : 1351-1365

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Characterization of a New BLM Mutation Associated with a Topoisomerase Ilα Defect in a Patient with Bloom's Syndrome

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