• Mutation; HGNC; HGNC:795; ATM; Simple; p.Arg2443Ter (c.7327C>T); ClinVar=VCV000003036; Zygosity=Heterozygous (PubMed=10864201; PubMed=12105990).
  
• Mutation; HGNC; HGNC:795; ATM; Simple; c.8365delA; Zygosity=Heterozygous (PubMed=10864201; PubMed=12105990).
  

PubMed=10864201; DOI=10.1054/bjoc.2000.1168; PMCID=PMC2363260
Delia D., Mizutani S., Panigone S., Tagliabue E., Fontanella E., Asada M., Yamada T., Taya Y., Prudente S., Saviozzi S., Frati L., Pierotti M.A., Chessa L.
ATM protein and p53-serine 15 phosphorylation in ataxia-telangiectasia (AT) patients and at heterozygotes.
Br. J. Cancer 82:1938-1945(2000)

PubMed=12105990; DOI=10.1667/0033-7587(2002)158[0195:DOAGMI]2.0.CO;2
Tsuchida R., Yamada T., Takagi M., Shimada A., Ishioka C., Katsuki Y., Igarashi T., Chessa L., Delia D., Teraoka H., Mizutani S.
Detection of ATM gene mutation in human glioma cell line M059J by a rapid frameshift/stop codon assay in yeast.
Radiat. Res. 158:195-201(2002)

PubMed=17124347; DOI=10.1155/2006/740493; PMCID=PMC3862285
Magliozzi M., Piane M., Torrente I., Sinibaldi L., Rizzo G., Savio C., Lulli P., De Luca A., Dallapiccola B., Chessa L.
DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.
Dis. Markers 22:257-264(2006)

PubMed=21112256; DOI=10.1016/j.dnarep.2010.10.012
De Amicis A., Piane M., Ferrari F., Fanciulli M., Delia D., Chessa L.
Role of senataxin in DNA damage and telomeric stability.
DNA Repair 10:199-209(2011)