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Maple syrup urine disease: the E1beta gene of human branched-chain alpha-ketoacid dehydrogenase complex has 11 rather than 10 exons, and the 3' UTR in one of the two E1beta mRNAs arises from intronic sequences.
PMID: 8651316 [PubMed - indexed for MEDLINE]
PMCID: PMC1915070
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