Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency due to heterozygosity for the common mutation and an allele resulting in low levels of MCAD mRNA.
第一作者:
B S,Andresen
第一单位:
Center 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);等位基因(Alleles);印迹法, DNA(Blotting, Southern);杂合子(Heterozygote);人类(Humans);突变(Mutation);聚合酶链反应(Polymerase Chain Reaction);RNA, 信使(RNA, Messenger);限制性内切酶图谱法(Restriction Mapping)
DOI
10.1007/BF00711806
PMID
7807932
发布时间
2019-08-30
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