• Mutation; HGNC; HGNC:795; ATM; Simple; c.2251del19; Zygosity=Heterozygous (PubMed=8808599; PubMed=16166284).
  
• Mutation; HGNC; HGNC:795; ATM; Simple; c.5675del88; Zygosity=Heterozygous (PubMed=8808599; PubMed=16166284).
  
• Mutation; HGNC; HGNC:795; ATM; Simple; c.6573del81; Zygosity=Heterozygous (PubMed=8808599; PubMed=16166284).
  

PubMed=761484; DOI=10.1159/000131301
Maimon Moses Cohen, Michal Sagi, Z. Ben-Zur, Tamar Schaap, Ruth Voss, Gertrude Kohn, Hannah Ben-Bassat;
Ataxia telangiectasia: chromosomal stability in continuous lymphoblastoid cell lines.
Cytogenet. Cell Genet. 23:44-52(1979)

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=8808599; PMCID=PMC1914811
Jocyndra Wright, Sharon Teraoka, Suna Onengut, Aslihan Tolun, Richard A. Gatti, Hans D. Ochs, Patrick Concannon;
A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.
Am. J. Hum. Genet. 59:839-846(1996)

PubMed=16166284; DOI=10.1158/0008-5472.CAN-04-1198
David J. Araten, David W. Golde, Rong H. Zhang, Howard Tzvi Thaler, Lucia Gargiulo, Rosario Notaro, Lucio Luzzatto;
A quantitative measurement of the human somatic mutation rate.
Cancer Res. 65:8111-8117(2005)

PubMed=23943852; DOI=10.1152/physiolgenomics.00064.2013; PMCID=PMC3798780
Li-Wen Zhang, Dennis A. Simpson, Cynthia L. Innes, Jeff Chou, Pierre R. Bushel, Richard S. Paules, William K. Kaufmann, Tong Zhou;
Gene expression signatures but not cell cycle checkpoint functions distinguish AT carriers from normal individuals.
Physiol. Genomics 45:907-916(2013)