• Mutation; HGNC; 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; PMCID=PMC324185
Jane Houldsworth, Martin Francis Lavin;
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
F. Paula Imray, Cheviot Kidson;
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
Rahmah Mohamed, Surinder Pal Singh, Sharad Kumar, Martin Francis Lavin;
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
Kinneret Savitsky, Anat Bar-Shira, Shlomit Gilad, Galit Rotman, Yael Ziv, Lina Vanagaite, Danilo A. Tagle, Sara Smith, Tamar Uziel, Sharon Sfez, Maya Ashkenazi ...Show all 30 authors... , Iris Pecker, Moshe Frydman, Reli Harnik, Sankhavaram R. Patanjali, Andrew D. Simmons, Gregory A. Clines, Adam Sartiel, Richard A. Gatti, Luciana Chessa, Ozden Sanal, Martin Francis Lavin, Nicolaas G.J. Jaspers, Alexander Malcolm R. Taylor, Colin Francis Arlett, Toru Miki, Sherman Morton Weissman, Michael Lovett, Francis Sellers Collins, Yosef Shiloh; Show fewer authors
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
Dianne Watters, Kum Kum Khanna, Heather J. Beamish, Geoffrey W. Birrell, Kevin Spring, Padmini Kedar, Magtouf Gatei, Deborah Stenzel, Karen Hobson, Sergei V. Kozlov, Ning Zhang ...Show all 15 authors... , Aine Farrell, Jonathan Ramsay, Richard A. Gatti, Martin Francis Lavin; Show fewer authors
Cellular localisation of the ataxia-telangiectasia (ATM) gene product and discrimination between mutated and normal forms.
Oncogene 14:1911-1921(1997)