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Motoaki Ohtsubo, PhD
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Journal Articles

Decreased Expression In NF-κB Essential Modulator Due to a Novel Splice-Site Mutation Causes Ectodermal Dysplasia with Immunodeficiency

Shuhei Karakawa, M.D, Satoshi Okada, MD, Miyuki Tsumura, BSc, Yoko Mizoguchi, MD, Norioki Ohno, MD, Shin'ichiro Yasunaga, MD, Motoaki Ohtsubo, PhD, Tomoki Kawai, MD, Ryuta Nishikomori, MD, Yoshihiro Takihara, MD, Masao Kobayashi, MD
Journal: Blood
Blood (2010) 116 (21): 1732.
https://doi.org/10.1182/blood.V116.21.1732.1732
Published: 2010
Journal Articles

A Novel Mutation K673R In STAT1 Impaired the STAT1 Signal Transduction In a dominant– Negative Manner Identified In a Japanese Boy with MSMD

Yoko Mizoguchi, MD, Miyuki Tsumura, B.Sc., Satoshi Okada, MD, Hidemasa Sakai, MD, Ryuta Nishikomori, MD, Shin'ichiro Yasunaga, MD, Motoaki Ohtsubo, PhD, Takuji Murata, MD, Hideto Obata, MD, Takahiro Yasumi, MD, Toshio Heike, MD, Tatsutoshi Nakahata, MD, Yoshihiro Takihara, MD, Masao Kobayashi, MD
Journal: Blood
Blood (2010) 116 (21): 1734.
https://doi.org/10.1182/blood.V116.21.1734.1734
Published: 2010
Journal Articles

Novel Heterozygous Mutation 572insA in TACI Identified in a Patient with Selective IgA Deficiency.

Satoshi Okada, MD, PhD, Teruyuki Kajiume, MD, PhD, Miyuki Tsumura, MSc, Kenichiro Shirao, MD, Yoshinori Ohno, MSc, Shin’ichiro Yasunaga, MD, PhD, Motoaki Ohtsubo, PhD, Mostafa Mofamed Sira, Hirokazu Kanegane, MD, PhD, Toshio Miyawaki, MD, PhD, Yoshihiro Takihara, MD, PhD, Masao Kobayashi, MD, PhD
Journal: Blood
Blood (2008) 112 (11): 1473.
https://doi.org/10.1182/blood.V112.11.1473.1473
Published: 2008