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

author
created [InstanceEdit:9864966] Rothfels, Karen, 2024-03-08
dbId 9864965
displayName 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
journal J Clin Invest
pages 1034-7
pubMedIdentifier 1885764
schemaClass LiteratureReference
title 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
url http://www.ncbi.nlm.nih.gov/pubmed/1885764
volume 88
year 1991
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