• Mutation; HGNC; HGNC:795; ATM; Simple; p.Pro1480Tyrfs*5 (c.4611_4611+9del10) (c.4437_4611del175); 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=9050866; DOI=10.1073/pnas.94.5.1840; PMCID=PMC20004
Kenneth D. Brown, Yael Ziv, Sunanda N. Sadanandan, Luciana Chessa, Francis Sellers Collins, Yosef Shiloh, Danilo A. Tagle;
The ataxia-telangiectasia gene product, a constitutively expressed nuclear protein that is not up-regulated following genome damage.
Proc. Natl. Acad. Sci. U.S.A. 94:1840-1845(1997)