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Title
Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group.
Abstract
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder. NBS-1, the gene defective in NBS, is located on chromosome 8q21 and has recently been cloned. The gene product, nibrin, is a novel protein, which is member of the hMre11/hRad50 protein complex, suggesting that the gene is involved in DNA double strand break repair.
Publication
Archives of disease in childhood, 2000, Vol 82, Issue 5, p400