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Article

Nijmegen breakage syndrome: the clearance pathway for mutant nibrin protein is allele specific.

Gene - 1 May 2013

Salewsky Bastian, Wessendorf Petra, Hirsch Daniel, Krenzlin Harald, Digweed Martin

Abstract excerpt

The autosomal recessive disorder Nijmegen breakage syndrome (NBS) is caused by mutations in the NBN gene which codes for the protein nibrin (NBS1; p95). In the majority of cases, a 5bp deletion, a founder mutation, leads to a hypomorphic 70kD protein, p70-nibrin, after alternative initiation of translation. Protein levels are of relevance for the clinical course of the disease, particularly with regard to...

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Identifiers

PMID: 23458873
DOI: 10.1016/j.gene.2013.02.033

Genes

NBN

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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