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

PubMed=2903889; DOI=10.1080/09553008814552321
Arlett C.F., Green M.H.L., Priestley A., Harcourt S.A., Mayne L.V.
Comparative human cellular radiosensitivity: I. The effect of SV40 transformation and immortalisation on the gamma-irradiation survival of skin derived fibroblasts from normal individuals and from ataxia-telangiectasia patients and heterozygotes.
Int. J. Radiat. Biol. 54:911-928(1988)

PubMed=7836839; DOI=10.1080/09553009414551951
Cole J., Arlett C.F.
Cloning efficiency and spontaneous mutant frequency in circulating T-lymphocytes in ataxia-telangiectasia patients.
Int. J. Radiat. Biol. 66:S123-S131(1994)

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=10987302
Girard P.-M., Foray N., Stumm M., Waugh A.P.W., Riballo E., Maser R.S., Phillips W.P., Petrini J.H.J., Arlett C.F., Jeggo P.A.
Radiosensitivity in Nijmegen breakage syndrome cells is attributable to a repair defect and not cell cycle checkpoint defects.
Cancer Res. 60:4881-4888(2000)

PubMed=16714754; DOI=10.1259/bjr/83726649
Arlett C.F., Plowman P.N., Rogers P.B., Parris C.N., Abbaszadeh F., Green M.H.L., McMillan T.J., Bush C., Foray N., Lehmann A.R.
Clinical and cellular ionizing radiation sensitivity in a patient with xeroderma pigmentosum.
Br. J. Radiol. 79:510-517(2006)

PubMed=18079351; DOI=10.1259/bjr/27072321
Arlett C.F., Green M.H.L., Rogers P.B., Lehmann A.R., Plowman P.N.
Minimal ionizing radiation sensitivity in a large cohort of xeroderma pigmentosum fibroblasts.
Br. J. Radiol. 81:51-58(2008)