Ryuuji Hoshide

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 adjacent introns

Toshinobu Matsuura, Ryuuji Hoshide, Chiaki Setoyama et al. · Human Genetics · 1993 · 42 citations

Adjacent Introns, Otc Deficiency, Mendelian Disorder +8

The polymorphic 43Thr bcl-2 protein confers relative resistance to autoimmunity: an analytical evaluation

Satoru Komaki, Michifumi Kohno, Nobuo Matsuura et al. · Human Genetics · 1998 · 33 citations

Bcl-2 Protein Confers, Immunogenetics, Autoimmune Disease +9

Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavourable prognosis to an asymptomatic older adult.

Iwao Matsuda, Toshinobu Matsuura, Atsushi Nishiyori et al. · Journal of Medical Genetics · 1996 · 31 citations · Full text

Genetics, Immunology, Pathology +21

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.

Ryuuji Hoshide, Toshinobu Matsuura, Y Haraguchi et al. · Journal of Clinical Investigation · 1993 · 29 citations · Full text

Carbamyl Phosphate Synthetase, Genetics, Molecular Biology +19

Molecular Cloning, Tissue Distribution, and Chromosomal Localization of Human Cationic Amino Acid Transporter 2 (HCAT2)

Ryuuji Hoshide, Yoichiro Ikeda, Shinnyo Karashima et al. · Genomics · 1996 · 27 citations

Molecular Physiology, Biochemistry, Natural Sciences +9