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Nobukuni Y., Mitsubuchi H., Akaboshi I., Indo Y., Endo F., Yoshioka A., Matsuda I. Maple syrup urine disease. Complete de- fect of the E1B subunit of the branched chain a-ketoacid dehyd- rogenase complex due to a deletion of an 11 bp repeat sequence which encodes a mitochondrial targeting leader peptide in a fa- mily with the disease. - J.Clin.Invest., 1991, v. 87, p. 1862- 1866.
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