Molecular Basis of Maple Syrup Urine Disease: Novel Mutations at the E1α Locus That Impair E1 (α2β2) Assembly or Decrease Steady-State E1α mRN A Levels of Branched-Chain α-Keto Acid Dehydrogenase Complex

Jacinta L. Chuang, Carolyn R. Fisher, Rody P. Cox, David T. Chuang

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Medicine & Life Sciences