[Frontiers in Bioscience 3, d517-524, June 3, 1998]
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CAVEAT LECTOR




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HUMAN MUTATIONS AFFECTING BRANCHED CHAIN a-KETOACID DEHYDROGENASE

Dean J. Danner and Christopher B. Doering

Emory University School of Medicine, Department of Genetics, 1462 Clifton Road NE, Atlanta, GA 30322

Received 5/13/98 Accepted 5/24/98

TABLE OF CONTENTS

1. Abstract
2. History of maple syrup urine disease
3. The BCKD complex
4. Molecular genetics of BCKD
5. Lessons learned from functional analysis of MSUD mutations
6. Perspectives/future goals
7. Acknowledgment
8. References
9. Entire manuscript

Key words: Maple Syrup Urine Disease, Branched Chain a-ketoacid Dehydrogenase, Human Mutations

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