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Showing 1 to 3 of 3 for “"Bloom's syndrome"”.

  1. The Immune Status of Two Bloom's Syndrome Siblings

    … brothers have been previously diagnosed as Bloom's Syndrome (BS). Due to lack of demonstrable increased sister chromatid exchange (SCE) in their blood cells and fibroblasts, diagnosis of BS is in question. Procedure. This study examined the immune reactions of these siblings with such tests …

    drake Repository record for The Immune Status of Two Bloom's Syndrome Siblings (opens in a new tab)

  2. Effect of Werner and Bloom Helicase Deficiencies On Dna Double-Strand Break Repair

    … result in a severe genetic disease. Werner syndrome is caused by a mutation in the WRN gene. Patients with this disease show signs of premature aging and are predisposed to mesenchymal cancers. Bloom's syndrome is caused by a mutation in the BLM gene. Patients with this disease obtain rashes …

    south-carolina Repository record for Effect of Werner and Bloom Helicase Deficiencies On Dna Double-Strand Break Repair (opens in a new tab)

  3. PARKIN, BLM AND EXO1: INVOLVEMENT IN POST-NER ACTIVITY IN NON-REPLICATING CELLS

    … we investigated the possible involvement of the Bloom syndrome RECQ-like helicase (BLM) in the response to COLs, since it is known to work in conjunction with EXO1 helicase in other processes like homologous recombination. Our data show that BLM is recruited to sites of local UV damage with …

    milano Repository record for PARKIN, BLM AND EXO1: INVOLVEMENT IN POST-NER ACTIVITY IN NON-REPLICATING CELLS (opens in a new tab)