• Mutation; HGNC; HGNC:7652; NBN; Simple; p.Lys219Asnfs*16 (c.657_661delACAAA) (657del5); ClinVar=VCV000006940; Zygosity=Homozygous (Coriell=GM07166).
  

PubMed=3337113; PMCID=PMC1715319
Nicolaas G.J. Jaspers, Rob Desire F.M. Taalman, Carla C. Baan;
Patients with an inherited syndrome characterized by immunodeficiency, microcephaly, and chromosomal instability: genetic relationship to ataxia telangiectasia.
Am. J. Hum. Genet. 42:66-73(1988)

DOI=10.1007/978-1-4757-5016-4_9
Nicolaas G.J. Jaspers, Len Roza, Wim Vermeulen, Andre P.M. Eker, Rob Desire F.M. Taalman, Jan Hendrik Jozef Hoeijmakers, Dirk Bootsma;
In vitro correction of cells from patients with mutagen hypersensitivity.
(In book chapter) DNA damage and repair; Castellani, Amleto (eds.); pp.73-82; Springer; Boston; USA (1989)

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

CLPUB00505
Kenshi Komatsu, Corry M.R. Weemaes, Dominique F.C.M. Smeets, Mitsuo Oshimura, Yutaka Okumura;
Establishment of cell line derived from the patient with Nijmegen breakage syndrome and the genetic complementation with ataxia telangiectasia disease.
J. Radiat. Res. 34:320-320(1993)

PubMed=12419185; DOI=10.1016/S0960-9822(02)01259-9
Junya Kobayashi, Hiroshi Tauchi, Shuichi Sakamoto, Asako Nakamura, Ken-ichi Morishima, Shinya Matsuura, Toshiko Kobayashi, Katsuyuki Tamai, Keiji Tanimoto, Kenshi Komatsu;
NBS1 localizes to gamma-H2AX foci through interaction with the FHA/BRCT domain.
Curr. Biol. 12:1846-1851(2002)

PubMed=19896956; DOI=10.1016/j.mrfmmm.2009.10.013
Paul F. Wilson, Peter B. Nham, Salustra S. Urbin, John M. Hinz, Irene M. Jones, Lawrence H. Thompson;
Inter-individual variation in DNA double-strand break repair in human fibroblasts before and after exposure to low doses of ionizing radiation.
Mutat. Res. 683:91-97(2010)