Maple syrup urine disease in Mennonites. Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of branched-chain alpha-keto acid dehydrogenase complex.

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Published in J Clin Invest on September 01, 1991

Authors

C R Fisher1, J L Chuang, R P Cox, C W Fisher, R A Star, D T Chuang

Author Affiliations

1: Department of Biochemistry, University of Texas Southwestern Medical Center, Dallas 75235.

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