• Mutation; HGNC; HGNC:795; ATM; Simple; c.4612del165 (Ex33del); Zygosity=Homozygous (PubMed=9600235).
  

PubMed=6876478; DOI=10.1007/BF01897042
Mituo Ikenaga, Mitsuo Midorikawa, Jiro Abe, Takashi Mimaki;
The sensitivities to radiations and radiomimetic chemicals of cells from patients with ataxia telangiectasia.
Jinrui Idengaku Zasshi 28:1-10(1983)

PubMed=9600235; DOI=10.1007/s004390050712
Yosuke Ejima, Masao S. Sasaki;
Mutations of the ATM gene detected in Japanese ataxia-telangiectasia patients: possible preponderance of the two founder mutations 4612del165 and 7883del5.
Hum. Genet. 102:403-408(1998)

PubMed=14570874; DOI=10.1074/jbc.M309457200
Kazuhito Naka, Akira Tachibana, Kyoji Ikeda, Noboru Motoyama;
Stress-induced premature senescence in hTERT-expressing ataxia telangiectasia fibroblasts.
J. Biol. Chem. 279:2030-2037(2004)

PubMed=27197874; DOI=10.1038/srep26342; PMCID=PMC4873825
Kohji Okamura, Hironari Sakaguchi, Rie Sakamoto-Abutani, Mahito Nakanishi, Ken Nishimura, Mayu Yamazaki-Inoue, Manami Ohtaka, Vaiyapuri Subbarayan Periasamy, Ali Abdullah Alshatwi, Akon Higuchi, Kazunori Hanaoka ...Show all 16 authors... , Kazuhiko Nakabayashi, Shuji Takada, Kenichiro Hata, Masashi Toyoda, Akihiro Umezawa; Show fewer authors
Distinctive features of single nucleotide alterations in induced pluripotent stem cells with different types of DNA repair deficiency disorders.
Sci. Rep. 6:26342.1-26342.10(2016)