AAAAAA

   
Results: 1-7 |
Results: 7
Myopathic form of very-long chain acyl-CoA dehydrogenase deficiency: Evidence for temperature-sensitive mild mutations in both mutant alleles in a Japanese girl
Authors: Fukao, T Watanabe, H Orii, KE Takahashi, Y Hirano, A Kondo, T Yamaguchi, S Aoyama, T Kondo, N
Citation: T. Fukao et al., Myopathic form of very-long chain acyl-CoA dehydrogenase deficiency: Evidence for temperature-sensitive mild mutations in both mutant alleles in a Japanese girl, PEDIAT RES, 49(2), 2001, pp. 227-231
Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: Identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic mutation causing exon 3 skipping
Authors: Watanabe, H Orii, KE Fukao, T Song, XQ Aoyama, T Ijlst, L Ruiter, J Wanders, RJA Kondo, N
Citation: H. Watanabe et al., Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: Identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic mutation causing exon 3 skipping, HUM MUTAT, 15(5), 2000, pp. 430-438
The mouse N-acetylgalactosamine-6-sulfate sulfatase (Galns) gene: cDNA isolation, genomic characterization, chromosomal assignment and analysis of the 5 '-flanking region
Authors: Montano, AM Yamagishi, A Tomatsu, S Fukuda, S Copeland, NG Orii, KE Isogai, K Yamada, N Kato, ZI Jenkins, NA Gilbert, DJ Sukegawa, K Orii, T Kondo, N
Citation: Am. Montano et al., The mouse N-acetylgalactosamine-6-sulfate sulfatase (Galns) gene: cDNA isolation, genomic characterization, chromosomal assignment and analysis of the 5 '-flanking region, BBA-MOL BAS, 1500(3), 2000, pp. 323-334
Succinyl-CoA : 3-ketoacid CoA transferase (SCOT): Cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations
Authors: Fukao, T Mitchell, GA Song, XQ Nakamura, H Kassovska-Bratinova, S Orii, KE Wraith, JE Besley, G Wanders, RJA Niezen-Koning, KE Berry, GT Palmieri, M Kondo, N
Citation: T. Fukao et al., Succinyl-CoA : 3-ketoacid CoA transferase (SCOT): Cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations, GENOMICS, 68(2), 2000, pp. 144-151
Peroxisome proliferator-induced long chain acyl-CoA thioesterases comprisea highly conserved novel multi-gene family involved in lipid metabolism
Authors: Hunt, MC Nousiainen, SEB Huttunen, MK Orii, KE Svensson, LT Alexson, SEH
Citation: Mc. Hunt et al., Peroxisome proliferator-induced long chain acyl-CoA thioesterases comprisea highly conserved novel multi-gene family involved in lipid metabolism, J BIOL CHEM, 274(48), 1999, pp. 34317-34326
Genes for the human mitochondrial trifunctional protein alpha- and beta-subunits are divergently transcribed from a common promoter region. (vol 274,pg 8077, 1999)
Authors: Orii, KE Orii, KO Souri, M Orii, T Kondo, N Hashimoto, T Aoyama, T
Citation: Ke. Orii et al., Genes for the human mitochondrial trifunctional protein alpha- and beta-subunits are divergently transcribed from a common promoter region. (vol 274,pg 8077, 1999), J BIOL CHEM, 274(24), 1999, pp. 17394-17394
Genes for the human mitochondrial trifunctional protein alpha- and beta-subunits are divergently transcribed from a common promoter region
Authors: Orii, KE Orii, KO Souri, M Orii, T Kondo, N Hashimoto, T Aoyama, T
Citation: Ke. Orii et al., Genes for the human mitochondrial trifunctional protein alpha- and beta-subunits are divergently transcribed from a common promoter region, J BIOL CHEM, 274(12), 1999, pp. 8077-8084
Risultati: 1-7 |