• Mutation; HGNC; HGNC:795; ATM; Simple; p.Lys1192Lys (c.3576G>A) (3403del174) (Ex26del); ClinVar=VCV000003035; Zygosity=Heterozygous (PubMed=9497252; PubMed=10864201; PubMed=12105990).
  
• Mutation; HGNC; HGNC:795; ATM; Simple; p.Trp1858Ter (c.5574G>A); ClinVar=VCV001380184; Zygosity=Heterozygous (PubMed=9497252; PubMed=10864201; PubMed=12105990).
  

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, M. 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=12105990; DOI=10.1667/0033-7587(2002)158[0195:DOAGMI]2.0.CO;2
Rika Tsuchida, Takayuki Yamada, Masatoshi Takagi, Akira Shimada, Chikashi Ishioka, Yoko Katsuki, Takashi Igarashi, Luciana Chessa, Domenico Delia, Hirobumi Teraoka, Shuki Mizutani;
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)