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Figure 4 | Orphanet Journal of Rare Diseases

Figure 4

From: Nijmegen breakage syndrome (NBS)

Figure 4

The NBN gene and nibrin. The exon structure of the gene is shown with the sites of mutations in NBS patients. The full length nibrin protein, with an apparent molecular weight of 95 kDa and the two protein fragments arising from the c.657_661del5 mutation are shown. The locations of serine residues targeted by the ATM kinase and acetylated lysine residues are indicated as are the relative locations of the FHA, BRCT, Mre11-binding and ATM-interaction domains.

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