Impact of heterozygous c.657-661del, p.I171V and p.R215W mutations in NBN on nibrin functions.


Nibrin, product of the NBN gene, together with MRE11 and RAD50 is involved in DNA double-strand breaks (DSBs) sensing and repair, induction of apoptosis and cell cycle control. Biallelic NBN mutations cause the Nijmegen breakage syndrome, a chromosomal instability disorder characterised by, among other things, radiosensitivity, immunodeficiency and an… (More)
DOI: 10.1093/mutage/ger084


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