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

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

Fingerprint

Dive into the research topics of '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.'. Together they form a unique fingerprint.

Medicine & Life Sciences