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

PubMed=837385
Lehmann A.R., Kirk-Bell S., Arlett C.F., Harcourt S.A., de Weerd-Kastelein E.A., Keijzer W., Hall-Smith P.
Repair of ultraviolet light damage in a variety of human fibroblast cell strains.
Cancer Res. 37:904-910(1977)

PubMed=7471106
Arlett C.F., Harcourt S.A.
Survey of radiosensitivity in a variety of human cell strains.
Cancer Res. 40:926-932(1980)

PubMed=3337113; PMCID=PMC1715319
Jaspers N.G.J., Taalman R.D.F.M., Baan C.C.
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
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)