Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan
OKUBO, M, HORINISHI, A, OMICHI, K, KANNO, H, HAYASAKA, K, MURASE, T, TAKEUCHI, M, SUZUKI, Y, SAKURA, N, HASEGAWA, Y, IGARASHI, T, GOTO, K, TAHARA, H, UCHIMOTO, S
Published in Human genetics (01.01.2000)
Published in Human genetics (01.01.2000)
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Journal Article
Glycogen storage disease type IIIa: first report of a causative missense mutation (G1448R) of the glycogen debranching enzyme gene found in a homozygous patient
Okubo, Minoru, Kanda, Fumio, Horinishi, Asako, Takahashi, Keiichi, Okuda, Shiho, Chihara, Kazuo, Murase, Toshio
Published in Human mutation (01.12.1999)
Published in Human mutation (01.12.1999)
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Journal Article
Mutational and haplotype analysis of AGL in patients with glycogen storage disease type III
Horinishi, Asako, Okubo, Minoru, Tang, Nelson L S, Hui, Joannie, To, Ka-Fai, Mabuchi, Tomohito, Okada, Toshihide, Mabuchi, Hiroshi, Murase, Toshio
Published in Journal of human genetics (01.01.2002)
Published in Journal of human genetics (01.01.2002)
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Journal Article
Detection of a new compound heterozygote (del G 916/G1401A) for lipoprotein lipase deficiency and a comparative haplotype analysis of the mutant lipoprotein lipase gene from Japanese patients
Okubo, Minoru, Inoue, Shigeaki, Horinishi, Asako, Ogihara, Takeshi, Kaneko, Ken-ichiro, Gotoda, Takanari, Yamada, Nobuhiro, Murase, Toshio
Published in Atherosclerosis (01.06.1999)
Published in Atherosclerosis (01.06.1999)
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Journal Article
No evidence of accelerated atherosclerosis in a 66-yr-old chylomicronemia patient homozygous for the nonsense mutation (Tyr61→Stop) in the lipoprotein lipase gene
Ebara, Tetsu, Okubo, Minoru, Horinishi, Asako, Adachi, Mitsuru, Murase, Toshio, Hirano, Tsutomu
Published in Atherosclerosis (01.12.2001)
Published in Atherosclerosis (01.12.2001)
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Journal Article
Molecular characterization of Egyptian patients with glycogen storage disease type IIIa
Endo, Yoriko, Fateen, Ekram, Aoyama, Yoshiko, Horinishi, Asako, Ebara, Tetsu, Murase, Toshio, Shin, Yoon S, Okubo, Minoru
Published in Journal of human genetics (01.10.2005)
Published in Journal of human genetics (01.10.2005)
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Journal Article
Glycogen storage disease III subtypes and muscle weakness during childhood
Okubo, M., Horinishi, A., Hashimoto, M., Kanno, H., Murase, T.
Published in Human genetics (03.02.1999)
Published in Human genetics (03.02.1999)
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Journal Article
A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12→G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb
OKUBO, M, HORINISHI, A, NAKAMURA, N, AOYAMA, Y, HASHIMOTO, M, ENDO, Y, MURASE, T
Published in Human genetics (1998)
Published in Human genetics (1998)
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Journal Article
Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan
Okubo, M., Horinishi, A., Takeuchi, M., Suzuki, Y., Sakura, N., Hasegawa, Y., Igarashi, T., Goto, K., Tahara, H., Uchimoto, S., Omichi, K., Kanno, H., Hayasaka, K., Murase, T.
Published in Human genetics (01.01.2000)
Published in Human genetics (01.01.2000)
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Journal Article
Compound heterozygous patient with glycogen storage disease type III: identification of two novel AGL mutations, a donor splice site mutation of Chinese origin and a 1-bp deletion of Japanese origin
Okubo, M, Horinishi, A, Suzuki, Y, Murase, T, Hayasaka, K
Published in American journal of medical genetics (31.07.2000)
Published in American journal of medical genetics (31.07.2000)
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Journal Article
Detection of a new compound heterozygote (del G916/G1401A) for lipoprotein lipase deficiency and a comparative haplotype analysis of the mutant lipoprotein lipase gene from Japanese patients
Okubo, M, Inoue, S, Horinishi, A, Ogihara, T, Kaneko, K, Gotoda, T, Yamada, N, Murase, T
Published in Atherosclerosis (01.06.1999)
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Published in Atherosclerosis (01.06.1999)
Report
Strobe apparatus and its manufacturing method
SAKAMOTO ARATA, KAWABATA KATSUNORI, NAKAGAWA KAZUE, OGURA HISASHI, FURUTSUKA NAOYUKI, UNO SHOHEI, MITSUI HAJIME, HORINISHI KATSUMI, INA HIROHIKO, UMEHARA TAKASHI, SUMISAKI KATSUSHI, MAKI TOSHINORI, FUKE MITSUO, ISHIKAWA KATSUJI
Year of Publication 11.03.2009
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Year of Publication 11.03.2009
Patent
Strobe device and the method for manufacturing the same
UNO, SHOHEI, SAKAMOTO, ARATA, MAKI, TOSHINORI, OGURA, TAKASHI, INA, HIROHIKO, NAOYUKI FURUTSUKA, HORINISHI, KATSUMI, KATSUJI ISHIKAMA
Year of Publication 01.06.2003
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Year of Publication 01.06.2003
Patent