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Molecular basis of 3-ketothiolase deficiency: Detection of gene mutations and expression of mutant cDNAs of mitochondrial acetoacetyl-CoA thiolase

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Journal of Inherited Metabolic Disease

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Authors and Affiliations

  1. Department of Pediatrics, Gifu University School of Medicine, 40 Tsukasa-machi, 500, Gifu, Japan

    T. Fukao, S. Yamaguchi, A. Wakazono, H. Okamoto & T. Orii

  2. Department of Life Science, Faculty of Science, Himeji Institute of Technology, Kamigori, 671-12, Hyogo, Japan

    T. Osumi

  3. Department of Biochemistry, Shinshu University School of Medicine, 390, Matsumoto, Nagano, Japan

    T. Hashimoto

Authors
  1. T. Fukao
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  2. S. Yamaguchi
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  3. A. Wakazono
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  4. H. Okamoto
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  5. T. Orii
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  6. T. Osumi
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  7. T. Hashimoto
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Fukao, T., Yamaguchi, S., Wakazono, A. et al. Molecular basis of 3-ketothiolase deficiency: Detection of gene mutations and expression of mutant cDNAs of mitochondrial acetoacetyl-CoA thiolase. J Inherit Metab Dis 15, 815–820 (1992). https://doi.org/10.1007/BF01800027

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  • DOI: https://doi.org/10.1007/BF01800027

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