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Am J Hum Genet. 1996 Jun;58(6):1373-7.

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
Free PMC Article
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