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