Maple syrup urine disease: Domain structure, mutations and exon skipping in the dihydrolipoyl transacylase (E2) component of the branched-chain α-keto acid dehydrogenase complex

D. T. Chuang, C. W. Fisher, K. S. Lau, T. A. Griffin, R. M. Wynn, R. P. Cox

Research output: Contribution to journalArticle

16 Citations (Scopus)
Original languageEnglish (US)
Pages (from-to)49-63
Number of pages15
JournalMolecular Biology and Medicine
Volume8
Issue number1
StatePublished - 1991

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Ketone Oxidoreductases
DNA Mutational Analysis
Molecular Sequence Data
3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)
Maple Syrup Urine Disease
Multienzyme Complexes
Acyltransferases
Chromosome Deletion
Protein Conformation
Exons
Mutation
DNA
dihydrolipoamide acyltransferase

ASJC Scopus subject areas

  • Genetics(clinical)
  • Molecular Biology

Cite this

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title = "Maple syrup urine disease: Domain structure, mutations and exon skipping in the dihydrolipoyl transacylase (E2) component of the branched-chain α-keto acid dehydrogenase complex",
author = "Chuang, {D. T.} and Fisher, {C. W.} and Lau, {K. S.} and Griffin, {T. A.} and Wynn, {R. M.} and Cox, {R. P.}",
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journal = "Molecular Biology and Medicine",
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AU - Lau, K. S.

AU - Griffin, T. A.

AU - Wynn, R. M.

AU - Cox, R. P.

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