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    Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease (English)
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    Y Nobukuni
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    H Mitsubuchi
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    I Akaboshi
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    Y Indo
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    F Endo
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    A Yoshioka
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    I Matsuda
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    May 1991
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    87
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    1862-6
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    5
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