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Search Results - Hoshide, Ryuuji
Search Results - Hoshide, Ryuuji
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The polymorphic 43Thr bcl-2 protein confers relative resistance to autoimmunity : an analytical evaluation
by
KOMAKI, S
,
KOHNO, M
,
MATSUURA, N
,
SHIMADZU, M
,
ADACHI, N
,
HOSHIDE, R
,
NISHIYAMA, S
,
MATSUDA, I
Published in
Human genetics
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Molecular Cloning, Tissue Distribution, and Chromosomal Localization of Human Cationic Amino Acid Transporter 2 (HCAT2)
by
Hoshide, Ryuuji
,
Ikeda, Yoichiro
,
Karashima, Shinnyo
,
Matsuura, Toshinobu
,
Komaki, Satoru
,
Kishino, Tatsuya
,
Niikawa, Norio
,
Endo, Fumio
,
Matsuda, Ichiro
Published in
Genomics (San Diego, Calif.)
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Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency
by
Shimadzu, Mitsunobu
,
Matsumoto, Hiroshi
,
Matsuura, Toshinobu
,
Kobayashi, Keiko
,
Komaki, Satoru
,
Kiwaki, Kohji
,
Hoshide, Ryuuji
,
Endo, Fumio
,
Saheki, Takeyori
,
Matsuda, Ichiro
Published in
Human mutation
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The R40h mutation in a late onset type of human ornithine transcarbamylase deficiency in male patients
by
NISHIYORI, A
,
YOSHINO, M
,
MORI, M
,
KATO, H
,
MATSUURA, T
,
HOSHIDE, R
,
MATSUDA, I
,
KUNO, T
,
MIYAZAKI, S
,
HIROSE, S.-I
,
KUROMARU, R.-I
Published in
Human genetics
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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...
by
Matsuda, I
,
Matsuura, T
,
Nishiyori, A
,
Komaki, S
,
Hoshide, R
,
Matsumoto, T
,
Funakoshi, M
,
Kiwaki, K
,
Endo, F
,
Hata, A
,
Shimadzu, M
,
Yoshino, M
Published in
Journal of medical genetics
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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...
by
MATSUURA, T
,
HOSHIDE, R
,
SETOYAMA, C
,
SHIMADA, K
,
HASE, Y
,
YANAGAWA, T
,
KAJITA, M
,
MATSUDA, I
Published in
Human genetics
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Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a male
by
Nishiyori, Atsushi
,
Yoshino, Makoto
,
Tananari, Yoshifumi
,
Matsuura, Toshinobu
,
Hoshide, Ryuuji
,
Mastuda, Ichiro
,
Mori, Masataka
,
Kato, Hirohisa
Published in
Human mutation
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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
by
HOSHIDE, R
,
MATSUURA, T
,
HARAGUCHI, Y
,
ENDO, F
,
YOSHINAGA, M
,
MATSUDA, I
Published in
The Journal of clinical investigation
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Assignment of the Human Carbamyl Phosphate Synthetase I Gene (CPS1) to 2q35 by Fluorescence in Situ Hybridization
by
Hoshide, Ryuuji
,
Soejima, Hidenobu
,
Ohta, Tohru
,
Niikawa, Norio
,
Haraguchi, Yougo
,
Matsuura, Toshinobu
,
Endo, Fumio
,
Matsuda, Ichiro
Published in
Genomics (San Diego, Calif.)
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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...
by
Matsuura, Toshinobu
,
Hoshide, Ryuuji
,
Setoyama, Chiaki
,
Shimada, Kazunori
,
Hase, Yutaka
,
Yanagawa, Toshihiko
,
Kajita, Mitsuharu
,
Matsuda, Ichiro
Published in
Human genetics
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Expression of four mutant human ornithine transcarbamylase genes in cultured Cos 1 cells relates to clinical phenotypes
by
MATSUURA, T
,
HOSHIDE, R
,
SETOYAMA, C
,
KOMAKI, S
,
KIWAKI, K
,
ENDO, F
,
NISHIKAWA, S
,
MATSUDA, I
Published in
Human genetics
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Familial lethal inheritance of a mutated paternal gene in females causing X-linked ornithine transcarbamylase (OTC) deficiency
by
Komaki, Satoru
,
Matsuura, Toshinobu
,
Oyanagi, Kazuhiko
,
Hoshide, Ryuuji
,
Kiwaki, Kohji
,
Endo, Fumio
,
Shimadzu, Mitsunobu
,
Matsuda, Ichiro
Published in
American journal of medical genetics
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