A nonsense mutation (R242X) in the branched‐chain α‐keto acid dehydrogenase E1α subunit gene (BCKDHA) as a cause of maple syrup urine disease
Jeffrey M. Chinsky, Rivka Carmi(Ben-Gurion University of the Negev), Shlomo Almashanu(Howard Hughes Medical Institute), Paul Costeas(Deakin University), Melissa Appel(University of Maryland, Baltimore), Nicholas P. Ambulos(University of Maryland, Baltimore)
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