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Publications by I Akaboshi
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
Medicine
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Purification of a Branched-Chain Keto Acid Dehydrogenase From Pseudomonas Putida.
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A Newborn With Maple Syrup Urine Disease
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A Tertiary Interaction in the Tetrahymena Intron Contributes to Selection of the 5' Splice Site.
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A Novel Aberrant Splice Site Mutation in the APC Gene
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Maple Syrup Urine Disease Hair Reveals the Importance of 18-Methyleicosanoic Acid in Cuticular Delamination
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Splicing Analysis Disclosed a Determinant Single Nucleotide for Exon Skipping Caused by a Novel Intraexonic Four-Nucleotide Deletion in the Dystrophin Gene
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Role of the 3' Splice Site in U12-Dependent Intron Splicing
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Base Pairing at the 5' Splice Site With U1 Small Nuclear RNA Promotes Splicing of the Upstream Intron but May Be Dispensable for Slicing of the Downstream Intron.
Molecular and Cellular Biology
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