X Q Song|T Fukao - JoVE Visualize

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Human Mutation|July 22, 1998

Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblingsX Q Song, T Fukao, H Watanabe, et al.

Molecular Genetics and Metabolism|February 13, 2001

A novel single-base substitution (380C>T) that activates a 5-base downstream cryptic splice-acceptor site within exon 5 in almost all transcripts in the human mitochondrial acetoacetyl-CoA thiolase geneK Nakamura, T Fukao, C Perez-Cerda, et al.

Journal of Investigational Allergology & Clinical Immunology|April 26, 2000

Immunoblot analysis for laboratory diagnosis of ataxia-telangiectasia: use of Epstein-Barr virus-transformed or phytohemagglutinin-stimulated lymphoblasts for detection of ATM proteinT Fukao, T Yoshida, H Kaneko, et al.

Human Mutation|May 2, 2000

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 skippingH Watanabe, K E Orii, T Fukao, et al.

Clinical Genetics|May 1, 1997

Two novel missense mutations in the ATP-binding domain of the adrenoleukodystrophy gene: immunoblotting and immunocytological study of two patientsA Imamura, Y Suzuki, X Q Song, et al.

Clinical Genetics|October 1, 1996

Mild form of beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase deficiency) in two Japanese siblings: identification of detectable residual activity and cross-reactive material in EB-transformed lymphocytesT Fukao, A Kodama, N Aoyanagi, et al.

Human Mutation|September 23, 1998

Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiencyT Fukao, H Nakamura, X Q Song, et al.

Human Mutation|January 1, 1997

Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying the normal alleleK Sukegawa, X Q Song, M Masuno, et al.

Biochimica Et Biophysica Acta|April 12, 1997

Succinyl-CoA:3-ketoacid coenzyme A transferase (SCOT): development of an antibody to human SCOT and diagnostic use in hereditary SCOT deficiencyX Q Song, T Fukao, G A Mitchell, et al.

European Journal of Immunology|May 23, 2000

Expression of functional IL-2 receptors on mature splenic dendritic cellsT Fukao, S Koyasu

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Showing results (11-20 of 135) with videos related to

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Pageof 14

Human Mutation|July 22, 1998

Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblingsX Q Song, T Fukao, H Watanabe, et al.

Molecular Genetics and Metabolism|February 13, 2001

A novel single-base substitution (380C>T) that activates a 5-base downstream cryptic splice-acceptor site within exon 5 in almost all transcripts in the human mitochondrial acetoacetyl-CoA thiolase geneK Nakamura, T Fukao, C Perez-Cerda, et al.

Journal of Investigational Allergology & Clinical Immunology|April 26, 2000

Immunoblot analysis for laboratory diagnosis of ataxia-telangiectasia: use of Epstein-Barr virus-transformed or phytohemagglutinin-stimulated lymphoblasts for detection of ATM proteinT Fukao, T Yoshida, H Kaneko, et al.

Human Mutation|May 2, 2000

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 skippingH Watanabe, K E Orii, T Fukao, et al.

Clinical Genetics|May 1, 1997

Two novel missense mutations in the ATP-binding domain of the adrenoleukodystrophy gene: immunoblotting and immunocytological study of two patientsA Imamura, Y Suzuki, X Q Song, et al.

Clinical Genetics|October 1, 1996

Mild form of beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase deficiency) in two Japanese siblings: identification of detectable residual activity and cross-reactive material in EB-transformed lymphocytesT Fukao, A Kodama, N Aoyanagi, et al.

Human Mutation|September 23, 1998

Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiencyT Fukao, H Nakamura, X Q Song, et al.

Human Mutation|January 1, 1997

Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying the normal alleleK Sukegawa, X Q Song, M Masuno, et al.

Biochimica Et Biophysica Acta|April 12, 1997

Succinyl-CoA:3-ketoacid coenzyme A transferase (SCOT): development of an antibody to human SCOT and diagnostic use in hereditary SCOT deficiencyX Q Song, T Fukao, G A Mitchell, et al.

European Journal of Immunology|May 23, 2000

Expression of functional IL-2 receptors on mature splenic dendritic cellsT Fukao, S Koyasu

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