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Article

Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group.

Archives of disease in childhood - 1 May 2000

Abstract excerpt

BACKGROUND: 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. AIMS: To study the clinical and laboratory features of NBS as...

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Identifiers

PMID: 10799436
DOI: 10.1136/adc.82.5.400
PMCID: PMC1718318

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