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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.
Mitsubuchi H, Nobukuni Y, Akaboshi I, Indo Y, Endo F, Matsuda I. Mitsubuchi H, et al. Among authors: nobukuni y. J Clin Invest. 1991 Apr;87(4):1207-11. doi: 10.1172/JCI115120. J Clin Invest. 1991. PMID: 2010537 Free PMC article.
Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease.
Nobukuni Y, Mitsubuchi H, Akaboshi I, Indo Y, Endo F, Yoshioka A, Matsuda I. Nobukuni Y, et al. J Clin Invest. 1991 May;87(5):1862-6. doi: 10.1172/JCI115209. J Clin Invest. 1991. PMID: 2022752 Free PMC article.
43 results