MUTATION OF THE E1-ALPHA SUBUNIT OF THE PYRUVATE-DEHYDROGENASE COMPLEX, IN RELATION TO HETEROGENEITY

被引：11

作者：

KITANO, A

ENDO, F

MATSUDA, I

MIYABAYASHI, S

DAHL, HHM

机构：

[1] KUMAMOTO UNIV,SCH MED,DEPT PEDIAT,KUMAMOTO 860,JAPAN

[2] UNIV MELBOURNE,ROYAL CHILDRENS HOSP,MURDOCH INST RES BIRTH DEFECTS,PARKVILLE,VIC 3052,AUSTRALIA

[3] TOHOKU UNIV,SCH MED,DEPT PEDIAT,SENDAI,MIYAGI 980,JAPAN

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1989年 / 12卷 / 02期

关键词：

D O I：

10.1007/BF01800710

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：97 / 107

页数：11

共 50 条

[1] A MUTATION IN THE E1-ALPHA SUBUNIT OF PYRUVATE-DEHYDROGENASE ASSOCIATED WITH VARIABLE EXPRESSION OF PYRUVATE-DEHYDROGENASE COMPLEX DEFICIENCY
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[6] PRENATAL-DIAGNOSIS OF PYRUVATE-DEHYDROGENASE E1-ALPHA SUBUNIT DEFICIENCY
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