• Mutation; HGNC; HGNC:795; ATM; Simple; p.Leu2427_Arg2428del (c.7278_7283delCCTTAG); ClinVar=VCV000003020; Zygosity=Heterozygous (PubMed=7792600).
  

PubMed=837385
Alan R. Lehmann, Susan Kirk-Bell, Colin Francis Arlett, Susan A. Harcourt, Elizabeth A. de Weerd-Kastelein, Wilma Keijzer, Patrick Hall-Smith;
Repair of ultraviolet light damage in a variety of human fibroblast cell strains.
Cancer Res. 37:904-910(1977)

PubMed=7471106
Colin Francis Arlett, Susan A. Harcourt;
Survey of radiosensitivity in a variety of human cell strains.
Cancer Res. 40:926-932(1980)

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)

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)