换一批Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism.
第一作者：
B S,Andresen
第一单位：
Research Unit for Molecular Medicine, Aarhus University Hospital, and Faculty of Health Science, Skejby Sygehus, DK 8200 Arhus N, Denmark. brage@biobase.dk
作者：
医学主题词
选择性剪接(Alternative Splicing);氨基酸代谢障碍, 先天性(Amino Acid Metabolism, Inborn Errors);氨基酸序列(Amino Acid Sequence);动物(Animals);碱基序列(Base Sequence);COS细胞(COS Cells);儿童, 学龄前(Child, Preschool);近亲(Consanguinity);DNA突变分析(DNA Mutational Analysis);酶稳定性(Enzyme Stability);外显子(Exons);女(雌)性(Female);杂合子(Heterozygote);人类(Humans);内含子(Introns);异亮氨酸(Isoleucine);男(雄)性(Male);线粒体(Mitochondria);突变(Mutation);氧化还原酶类(Oxidoreductases);氧化还原酶类(作用于CH-CH键供体)(Oxidoreductases Acting on CH-CH Group Donors);巴基斯坦(Pakistan);蛋白质转运(Protein Transport);序列缺失(Sequence Deletion);转染(Transfection);缬氨酸(Valine)
DOI
10.1086/303105
PMID
11013134
发布时间
2020-08-24
- 浏览25
American journal of human genetics
1095-103页
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文
