A novel mutation (P316L) in a female with pyruvate dehydrogenase E1 alpha deficiency.
作者信息
Takakubo F, Thorburn D R, Brown R M, Brown G K, Dahl H H
机构信息
Murdoch Institute for Research Into Birth Defects, Royal Children's Hospital, Parkville, Melbourne, Victoria 3052, Australia.
出版信息
Hum Mutat. 1995;6(3):274-5. doi: 10.1002/humu.1380060317.
PMID:8535453
Abstract
摘要
Zotero 插件