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Article

Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome.

Gene - 1 Nov 2009

Lins Stephan, Kim Ryong, Krüger Lars, Chrzanowska Krystyna H, Seemanova Eva, Digweed Martin

Abstract excerpt

Patients affected by the autosomal recessive Nijmegen Breakage Syndrome (NBS [MIM 251260]) have possibly the highest risk for developing a malignancy of all the chromosomal instability syndromes. This reflects the profound disturbance to genomic integrity and cellular homeostasis that is caused by the mutation of the essential mammalian gene, NBN. Whilst null-mutation of Nbn is lethal in the mouse, NBS patients...

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Identifiers

PMID: 19635536
DOI: 10.1016/j.gene.2009.07.013

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NBN

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