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Nijmegen breakage syndrome

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 ge...

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Détails bibliographiques
Auteur principal: The, I
Format: Artigo
Langue:Inglês
Publié: BMJ Group 2000
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1718318/
https://ncbi.nlm.nih.gov/pubmed/10799436
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/adc.82.5.400
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