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  • Molecular assay reagents intended to identify mutations in the dihydrolipoamide branched chain transacylase E2 (DBT) gene, located at chromosome 1p31, which encodes for a protein that catalyzes the conversion of alpha keto acids into acyl-coenzyme A (acyl-CoA) and carbon dioxide. Mutations at this locus have been identified in infants with early-onset maple syrup urine disease (MSUD) type II.
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