A nonsense mutation (R242X) in the branched-chain alpha-keto acid dehydrogenase E1alpha subunit gene (BCKDHA) as a cause of maple syrup urine disease. Mutations in brief no. 160. Online.

J. Chinsky, M. Appel, S. Almashanu, P. Costeas, N. Ambulos, R. Carmi

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