Maple Syrup Urine Disease Caused by a Partial Deletion in the Inner E2 Core Domain of the Branched Chain Alpha-Keto Acid Dehydrogenase Complex Due to Aberrant Splicing. A Single Base Deletion at a 5'-Splice Donor Site of an Intron of the E2 Gene Disrupts the Consensus Sequence in This Region.
Journal of Clinical Investigation - United States
doi 10.1172/jci115120
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April 1, 1991
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American Society for Clinical Investigation