换一批The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?
第一作者：
B S,Andresen
第一单位：
Center for Medical Molecular Biology, Aarhus University Hospital and Faculty of Health Science, Denmark. brage@biobase.dk
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);青少年(Adolescent);等位基因(Alleles);印迹法, 蛋白质(Blotting, Western);伴侣蛋白10(Chaperonin 10);伴侣蛋白60(Chaperonin 60);儿童(Child);儿童, 学龄前(Child, Preschool);酶激活(Enzyme Activation);大肠杆菌(Escherichia coli);外显子(Exons);女(雌)性(Female);杂合子(Heterozygote);人类(Humans);婴儿(Infant);婴儿, 新生(Infant, Newborn);男(雄)性(Male);突变(Mutation);系谱(Pedigree);表型(Phenotype);聚合酶链反应(Polymerase Chain Reaction);重组蛋白质类(Recombinant Proteins);限制性内切酶图谱法(Restriction Mapping);序列分析, DNA(Sequence Analysis, DNA);序列缺失(Sequence Deletion);温度(Temperature)
DOI
10.1093/hmg/6.5.695
PMID
9158144
发布时间
2022-03-10
- 浏览28
Human molecular genetics
695-707页
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