A nonsense mutation (R242X) in the branched-chain α-keto acid dehydrogenase E1α subunit gene (BCKDHA) as a cause of maple syrup urine diseaseJeffrey M. Chinsky, Rivka Carmi, Nicholas P. Ambulos et al.|Human Mutation|1998Cited by 20
A nonsense mutation (R242X) in the branched‐chain α‐keto acid dehydrogenase E1α subunit gene (BCKDHA) as a cause of maple syrup urine diseaseJeffrey M. Chinsky, Rivka Carmi, Melissa Appel et al.|Human Mutation|1998Cited by 0