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Deficiency of the E1β subunit in the branched-chain α-keto acid dehydrogenase complex due to a single base substitution to the intron 5, resulting in two alternatively spliced mRNAs in patient with maple syrup urine disease

Intron 5Cellular EnzymologySingle Base SubstitutionNatural SciencesGeneticsMolecular BiologyMolecular GeneticsE1β SubunitMedicineGene ExpressionAlcohol Dehydrogenases