• Mutation; HGNC; HGNC:795; ATM; Simple; p.Arg1921Ter (c.5763-1050A>G) (IVS40+1126A>G) (5762ins137); ClinVar=VCV000003021; Zygosity=Unspecified (PubMed=12082606).
  

PubMed=7836839; DOI=10.1080/09553009414551951
Cole J., Arlett C.F.
Cloning efficiency and spontaneous mutant frequency in circulating T-lymphocytes in ataxia-telangiectasia patients.
Int. J. Radiat. Biol. 66:S123-S131(1994)

PubMed=12082606; DOI=10.1038/sj.onc.1205596
Girard P.-M., Riballo E., Begg A.C., Waugh A.P.W., Jeggo P.A.
Nbs1 promotes ATM dependent phosphorylation events including those required for G1/S arrest.
Oncogene 21:4191-4199(2002)

PubMed=15574327; DOI=10.1016/j.molcel.2004.10.029
Riballo E., Kuhne M., Rief N., Doherty A.J., Smith G.C.M., Recio M.-J., Reis C., Dahm K., Fricke A., Krempler A., Parker A.R., Jackson S.P., Gennery A.R., Jeggo P.A., Lobrich M.
A pathway of double-strand break rejoining dependent upon ATM, Artemis, and proteins locating to gamma-H2AX foci.
Mol. Cell 16:715-724(2004)

PubMed=18079351; DOI=10.1259/bjr/27072321
Arlett C.F., Green M.H.L., Rogers P.B., Lehmann A.R., Plowman P.N.
Minimal ionizing radiation sensitivity in a large cohort of xeroderma pigmentosum fibroblasts.
Br. J. Radiol. 81:51-58(2008)