Yoshitaka Nobukuni: "Maple syrup urine disease;Complete defect of the E_1β subunit of the branched chain αーketoacid dehydrogenase complex due to a deletion of an 11ーbase pair repeat sequence which encodes a mitochondrial targeting leader peptide in a fami
Yoshitaka Nobukuni: "Maple syrup urine disease;Complete defect of the E_1β subunit of the branched chain αーketoacid dehydrogenase complex due to a deletion of an 11ーbase pair repeat sequence which encodes a mitochondrial targeting leader peptide in a fami
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Yoshitaka Nobukuni：“枫糖浆尿病；由于家族中编码线粒体靶向前导肽的 11 碱基对重复序列缺失，导致支链 α-酮酸脱氢酶复合物的 E_1β 亚基完全缺陷。
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