Ataxia-telangiectasia in the Japanese population: Identification of R1917X, W2491R, R2909G, IVS33+2T→A, and 7883del5, the latter two being relatively common mutations

Toshiyuki Fukao*, Xiang Qian Song, Toko Yoshida, Hideaki Tashita, Hideo Kaneko, Takahide Teramoto, Ryosuke Inoue, Kenji Katamura, Mitsufumi Mayumi, Michio Hiratani, Noboru Taniguchi, Junichi Arai, Hiroshi Wakiguchi, Anat Bar-Shira, Yosef Shiloh, Naomi Kondo

*Corresponding author for this work

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Biochemistry, Genetics and Molecular Biology