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{ <http://identifiers.org/pubmed/2022752> ?p ?o ?g. }
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2022752
title
"
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
"
provenance
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