Hiroshi Mitsubuchi: "Maple syrup urine disease caused by a partial deletion in the inner E_2 core domain of the branched chain αーketo acid dehydrogenase complex due to aberrent splicing.A single base deletion at a 5′ーsplice donor site of an intron of the
Hiroshi Mitsubuchi: "Maple syrup urine disease caused by a partial deletion in the inner E_2 core domain of the branched chain αーketo acid dehydrogenase complex due to aberrent splicing.A single base deletion at a 5′ーsplice donor site of an intron of the
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Hiroshi Mitsubuchi：“枫糖浆尿病是由支链 α-酮酸脱氢酶复合物的内部 E_2 核心结构域由于剪接异常而部分缺失引起的。内含子 5 剪接供体位点的单碱基缺失这
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