• 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
Jane Cole, Colin Francis Arlett;
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
Pierre-Marie Girard, Enriqueta Riballo, Adrian C. Begg, Alastair P.W. Waugh, Penelope Ann Jeggo;
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
Enriqueta Riballo, Martin Kuhne, Nicole Rief, Aidan J. Doherty, Graeme C.M. Smith, Maria-Jose Recio, Caroline Reis, Kirsten Dahm, Andreas Fricke, Andrea Krempler, Antony R. Parker ...Show all 15 authors... , Stephen Philip Jackson, Andrew R. Gennery, Penelope Ann Jeggo, Markus Lobrich; Show fewer authors
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
Colin Francis Arlett, Michael H.L. Green, Paul Bryan Rogers, Alan R. Lehmann, Piers N. Plowman;
Minimal ionizing radiation sensitivity in a large cohort of xeroderma pigmentosum fibroblasts.
Br. J. Radiol. 81:51-58(2008)