换一批A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD).
第一作者：
B S,Andresen
第一单位：
University Department of Clinical Chemistry, Aarhus Kommunehospital, 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);精氨酸(Arginine);碱基序列(Base Sequence);细胞, 培养的(Cells, Cultured);半胱氨酸(Cysteine);DNA突变分析(DNA Mutational Analysis);女(雌)性(Female);杂合子(Heterozygote);人类(Humans);婴儿(Infant);婴儿, 新生(Infant, Newborn);脂质代谢缺陷, 先天性(Lipid Metabolism, Inborn Errors);男(雄)性(Male);分子序列数据(Molecular Sequence Data);诱变, 定点(Mutagenesis, Site-Directed);氧化还原(Oxidation-Reduction);系谱(Pedigree);点突变(Point Mutation);聚合酶链反应(Polymerase Chain Reaction);多态性, 限制性片段长度(Polymorphism, Restriction Fragment Length);蛋白质结构, 二级(Protein Structure, Secondary);重组蛋白质类(Recombinant Proteins);构效关系(Structure-Activity Relationship)
PMID
8102510
发布时间
2020-08-24
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