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  • Akira Hata, Chiaki Setoyama, +4 authors Ichiro Matsuda
  • Biology, Medicine
  • American journal of human genetics
  • 1989 (First Published: 1 July 1989)
  • To define the molecular basis for the TaqI site alteration in the ornithine transcarbamylase (OTC) (E.C.2.1.3.3) gene of a female patient with mild OTC deficiency, we used a combination of genomicContinue Reading
    A defect in the E,# subunit of the branched chain a-ketoacid dehydrogenase(BCKDH) complex is one cause ofmaple syrup urine disease (MSUD). In an attempt to elucidate the molecular basis ofMSUD, weContinue Reading
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  • Yoshitaka Nobukuni, Hiroshi Mitsubuchi, Fumio Endo, Izumi Akaboshi, Junichiro Asaka, Ichiro Matsuda
  • Biology, Medicine
  • The Journal of clinical investigation
  • 1990 (First Published: 1 July 1990)
  • A defect in the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase (BCKDH) complex is one cause of maple syrup urine disease (MSUD). In an attempt to elucidate the molecular basis ofContinue Reading