Mitsubuchi H.,1991b
Mitsubuchi H., Nobukuni Y., Akaboshi I., Indo Y., Endo F., Matsuda I. Maple syrup urine disease caused by a par- tial deletion in the inner E2 core domain of the branched-chain a-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. - J.Clin.Invest., 1991, v. 87, p. 1207-1211.
