The polymorphic 43Thr bcl-2 protein confers relative resistance to autoimmunity : an analytical evaluation von KOMAKI, S, KOHNO, M, MATSUURA, N, SHIMADZU, M, ADACHI, N, HOSHIDE, R, NISHIYAMA, S, MATSUDA, I

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Molecular Cloning, Tissue Distribution, and Chromosomal Localization of Human Cationic Amino Acid Transporter 2 (HCAT2) von Hoshide, Ryuuji, Ikeda, Yoichiro, Karashima, Shinnyo, Matsuura, Toshinobu, Komaki, Satoru, Kishino, Tatsuya, Niikawa, Norio, Endo, Fumio, Matsuda, Ichiro

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Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency von Shimadzu, Mitsunobu, Matsumoto, Hiroshi, Matsuura, Toshinobu, Kobayashi, Keiko, Komaki, Satoru, Kiwaki, Kohji, Hoshide, Ryuuji, Endo, Fumio, Saheki, Takeyori, Matsuda, Ichiro

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The R40h mutation in a late onset type of human ornithine transcarbamylase deficiency in male patients von NISHIYORI, A, YOSHINO, M, MORI, M, KATO, H, MATSUURA, T, HOSHIDE, R, MATSUDA, I, KUNO, T, MIYAZAKI, S, HIROSE, S.-I, KUROMARU, R.-I

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First aid trainings held at institutions for children or adults with severe motor and intellectual disabilities: Aiming for IJLS (Immediate Jushin Life Support) von Hoshide, Ryuuji, Syuto, Tsugihiko

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Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavourable prognosis to an asymptomati... von Matsuda, I, Matsuura, T, Nishiyori, A, Komaki, S, Hoshide, R, Matsumoto, T, Funakoshi, M, Kiwaki, K, Endo, F, Hata, A, Shimadzu, M, Yoshino, M

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For novel gene mutations in five Japanese male patients with neonatal or late onset OTC deficiency : application of PCR-single-strand conformation polymorphisms for all exons and a... von MATSUURA, T, HOSHIDE, R, SETOYAMA, C, SHIMADA, K, HASE, Y, YANAGAWA, T, KAJITA, M, MATSUDA, I

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Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a male von Nishiyori, Atsushi, Yoshino, Makoto, Tananari, Yoshifumi, Matsuura, Toshinobu, Hoshide, Ryuuji, Mastuda, Ichiro, Mori, Masataka, Kato, Hirohisa

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Carbamyl phosphate synthetase I deficiency : one base substitution in an exon of the CPS I gene causes a 9-basepair deletion due to aberrant splicing von HOSHIDE, R, MATSUURA, T, HARAGUCHI, Y, ENDO, F, YOSHINAGA, M, MATSUDA, I

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Assignment of the Human Carbamyl Phosphate Synthetase I Gene (CPS1) to 2q35 by Fluorescence in Situ Hybridization von Hoshide, Ryuuji, Soejima, Hidenobu, Ohta, Tohru, Niikawa, Norio, Haraguchi, Yougo, Matsuura, Toshinobu, Endo, Fumio, Matsuda, Ichiro

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For novel gene mutations in five Japanese male patients with neonatal or late onset OTC deficiency: application of PCR-single-strand conformation polymorphisms for all exons and ad... von Matsuura, Toshinobu, Hoshide, Ryuuji, Setoyama, Chiaki, Shimada, Kazunori, Hase, Yutaka, Yanagawa, Toshihiko, Kajita, Mitsuharu, Matsuda, Ichiro

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Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency von Matsuura, Toshinobu, Hoshide, Ryuuji, Kiwaki, Kohji, Komaki, Satoru, Koike, Emiko, Endo, Fumio, Oyanagi, Kazuhiko, Suzuki, Yoshimi, Kato, Ineko, Ishikawa, Kaoru, Yoda, Hitoshi, Kamitani, Shigeki, Sakaki, Yoshiyuki, Matsuda, Ichiro

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Expression of four mutant human ornithine transcarbamylase genes in cultured Cos 1 cells relates to clinical phenotypes von MATSUURA, T, HOSHIDE, R, SETOYAMA, C, KOMAKI, S, KIWAKI, K, ENDO, F, NISHIKAWA, S, MATSUDA, I

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重症心身障害児（者）施設における救急訓練: IJLS（Immediate 重心’s Life Support）をめざして von 星出, 龍志, 首藤, 二彦

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Familial lethal inheritance of a mutated paternal gene in females causing X-linked ornithine transcarbamylase (OTC) deficiency von Komaki, Satoru, Matsuura, Toshinobu, Oyanagi, Kazuhiko, Hoshide, Ryuuji, Kiwaki, Kohji, Endo, Fumio, Shimadzu, Mitsunobu, Matsuda, Ichiro

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Prenatal monitoring in a family at high risk for ornithine transcarbamylase (OTC) deficiency: A new mutation of an A-to-C transversion in position +4 of intron 1 of the OTC gene th... von Hoshide, Ryuuji, Matsuura, Toshinobu, Sagara, Yusuke, Kubo, Takahiko, Shimadzu, Mitsunobu, Endo, Fumio, Matsuda, Ichiro

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