• Mutation; HGNC; HGNC:795; ATM; Simple; p.Arg3047Ter (c.9139C>T); ClinVar=VCV000003029; Zygosity=Homozygous (PubMed=9497252; PubMed=10864201).
  

PubMed=9497252; DOI=10.1086/301755; PMCID=PMC1376949
Shlomit Gilad, Luciana Chessa, Rami Khosravi, Pamela Russell, Yaron Galanty, Maria Piane, Richard A. Gatti, Timothy J. Jorgensen, Yosef Shiloh, Anat Bar-Shira;
Genotype-phenotype relationships in ataxia-telangiectasia and variants.
Am. J. Hum. Genet. 62:551-561(1998)

PubMed=10864201; DOI=10.1054/bjoc.2000.1168; PMCID=PMC2363260
Domenico Delia, Shuki Mizutani, Silvia Panigone, Elda Tagliabue, Enrico Fontanella, Minoru Asada, Takayuki Yamada, Yoichi Taya, Sabrina Prudente, Silvia Saviozzi, Luigi Frati ...Show all 13 authors... , Marco Alessandro Pierotti, Luciana Chessa; Show fewer authors
ATM protein and p53-serine 15 phosphorylation in ataxia-telangiectasia (AT) patients and at heterozygotes.
Br. J. Cancer 82:1938-1945(2000)

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)