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Publications by F Endo
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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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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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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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.
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