• Mutation; HGNC; HGNC:795; ATM; Simple; p.Cys252_Glu253delinsTer (c.756_757delTG) (p.Cys252Terfs); ClinVar=VCV000231178; Zygosity=Homozygous (PubMed=8845835).
  

PubMed=8845835; DOI=10.1093/hmg/5.4.433
Gilad S., Khosravi R., Shkedy D., Uziel T., Ziv Y., Savitsky K., Rotman G., Smith S., Chessa L., Jorgensen T.J., Harnik R., Frydman M., Sanal O., Portnoi S., Goldwicz Z., Jaspers N.G.J., Gatti R.A., Lenoir G.M., Lavin M.F., Tatsumi K., Wegner R.-D., Shiloh Y., Bar-Shira A.
Predominance of null mutations in ataxia-telangiectasia.
Hum. Mol. Genet. 5:433-439(1996)

PubMed=9244351; DOI=10.1038/sj.onc.1201319
Ziv Y., Bar-Shira A., Pecker I., Russell P., Jorgensen T.J., Tsarfaty I., Shiloh Y.
Recombinant ATM protein complements the cellular A-T phenotype.
Oncogene 15:159-167(1997)

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)