Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency due to heterozygosity for the common mutation and an allele resulting in low levels of MCAD mRNA

J Inherit Metab Dis. 1994;17(3):275-8. doi: 10.1007/BF00711806.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acyl-CoA Dehydrogenase
  • Acyl-CoA Dehydrogenases / biosynthesis
  • Acyl-CoA Dehydrogenases / deficiency*
  • Acyl-CoA Dehydrogenases / genetics*
  • Alleles
  • Blotting, Southern
  • Heterozygote*
  • Humans
  • Mutation / genetics*
  • Polymerase Chain Reaction
  • RNA, Messenger / metabolism*
  • Restriction Mapping

Substances

  • RNA, Messenger
  • Acyl-CoA Dehydrogenases
  • Acyl-CoA Dehydrogenase