换一批Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase.
第一作者：
M J,Corydon
第一单位：
Centre for Medical Molecular Biology, Aarhus University Hospital, Skejby Sygehus, Denmark.
作者：
医学主题词
酰基CoA脱氢酶(Acyl-CoA Dehydrogenase);酰基CoA脱氢酶类(Acyl-CoA Dehydrogenases);动物(Animals);结合部位(Binding Sites);细胞系, 转化(Cell Line, Transformed);DNA(DNA);基因表达(Gene Expression);遗传变异(Genetic Variation);脂质代谢缺陷, 先天性(Lipid Metabolism, Inborn Errors);丙二酸盐类(Malonates);点突变(Point Mutation);多态现象, 单链构象(Polymorphism, Single-Stranded Conformational);RNA, 信使(RNA, Messenger)
DOI
10.1203/00006450-199606000-00021
PMID
8725270
发布时间
2019-12-10
- 浏览18
Pediatric research
1059-66页
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