线粒体乙酰乙酰辅酶A硫解酶缺乏症中的两种新突变。
Two novel mutations in mitochondrial acetoacetyl-CoA thiolase deficiency.
作者信息
Mrázová L, Fukao T, Hálovd K, Gregová E, Kohút V, Pribyl D, Chrastina P, Kondo N, Pospisilová E
机构信息
Institute of Inherited Metabolic Diseases, General Faculty Hospital & Charles University 1st Faculty of Medicine, Prague, Czech Republic.
出版信息
J Inherit Metab Dis. 2005;28(2):235-6. doi: 10.1007/s10545-005-7497-6.
PMID:15877211
Abstract
We report a new patient with acetoacetyl-CoA thiolase deficiency in whom we found two new missense mutations.
摘要
我们报告了一名新的乙酰乙酰辅酶A硫解酶缺乏症患者，在该患者中我们发现了两个新的错义突变。
Zotero 插件