PYRUVATE-DEHYDROGENASE DEFICIENCY IN A MALE CAUSED BY A POINT MUTATION (F205L) IN THE E1-ALPHA SUBUNIT

被引：13
作者：
DAHL, HHM
BROWN, GK
机构：
[1] Murdoch Institute for Research Into Birth Defects, Royal Children's Hospital, Melbourne, Victoria, 3052, Parkville
[2] Genetics Laboratory, Department of Biochemistry, University of Oxford, Oxford
来源：
HUMAN MUTATION | 1994年 / 3卷 / 02期
关键词：
D O I：
10.1002/humu.1380030210
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
[No abstract available]
引用
收藏
页码：152 / 155
页数：4
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