• Mutation; HGNC; 795; ATM; Simple; p.Arg2547_Ser2549del (c.7638_7646delTAGAATTTC) (7636del9); ClinVar=VCV000003019; Zygosity=Homozygous (PubMed=7792600; PubMed=9150358).
  

PubMed=7433105; DOI=10.1093/nar/8.16.3709
Houldsworth J., Lavin M.F.
Effect of ionizing radiation on DNA synthesis in ataxia telangiectasia cells.
Nucleic Acids Res. 8:3709-3720(1980)

PubMed=6197197; DOI=10.1016/0009-2797(83)90167-9
Imray F.P., Kidson C.
Responses of Huntington's disease and ataxia telangiectasia lymphoblastoid cells to bleomycin.
Chem. Biol. Interact. 47:325-336(1983)

PubMed=2825700; DOI=10.1016/0006-291X(87)91629-9
Mohamed R., Singh S.P., Kumar S., Lavin M.F.
A defect in DNA topoisomerase II activity in ataxia-telangiectasia cells.
Biochem. Biophys. Res. Commun. 149:233-238(1987)

PubMed=7792600; DOI=10.1126/science.7792600
Savitsky K., Bar-Shira A., Gilad S., Rotman G., Ziv Y., Vanagaite L., Tagle D.A., Smith S., Uziel T., Sfez S., Ashkenazi M., Pecker I., Frydman M., Harnik R., Patanjali S.R., Simmons A.D., Clines G.A., Sartiel A., Gatti R.A., Chessa L., Sanal O., Lavin M.F., Jaspers N.G.J., Taylor A.M.R., Arlett C.F., Miki T., Weissman S.M., Lovett M., Collins F.S., Shiloh Y.
A single ataxia telangiectasia gene with a product similar to PI-3 kinase.
Science 268:1749-1753(1995)

PubMed=9150358; DOI=10.1038/sj.onc.1201037
Watters D., Khanna K.K., Beamish H.J., Birrell G., Spring K., Kedar P., Gatei M., Stenzel D., Hobson K., Kozlov S., Zhang N., Farrell A., Ramsay J., Gatti R.A., Lavin M.F.
Cellular localisation of the ataxia-telangiectasia (ATM) gene product and discrimination between mutated and normal forms.
Oncogene 14:1911-1921(1997)