• 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
Shlomit Gilad, Rami Khosravi, Dganit Shkedy, Tamar Uziel, Yael Ziv, Kinneret Savitsky, Galit Rotman, Sara Smith, Luciana Chessa, Timothy J. Jorgensen, Reli Harnik ...Show all 23 authors... , Moshe Frydman, Ozden Sanal, Sima Portnoi, Zipora Goldwicz, Nicolaas G.J. Jaspers, Richard A. Gatti, Gilbert Marcel Lenoir, Martin Francis Lavin, Kouichi Tatsumi, Rolf-Dieter Wegner, Yosef Shiloh, Anat Bar-Shira; Show fewer authors
Predominance of null mutations in ataxia-telangiectasia.
Hum. Mol. Genet. 5:433-439(1996)

PubMed=9244351; DOI=10.1038/sj.onc.1201319
Yael Ziv, Anat Bar-Shira, Iris Pecker, Pamela Russell, Timothy J. Jorgensen, Ilan Tsarfaty, Yosef Shiloh;
Recombinant ATM protein complements the cellular A-T phenotype.
Oncogene 15:159-167(1997)

PubMed=17124347; DOI=10.1155/2006/740493; PMCID=PMC3862285
Monia Magliozzi, Maria Piane, Isabella Torrente, Lorenzo Sinibaldi, Giovanni Rizzo, Camilla Savio, Patrizia Lulli, Alessandro De Luca, Bruno Dallapiccola, Luciana Chessa;
DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.
Dis. Markers 22:257-264(2006)