Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations

J Inherit Metab Dis. 1997 Jul;20(3):420-2. doi: 10.1023/a:1005310903004.
No abstract available

MeSH terms

  • 3-Hydroxyacyl CoA Dehydrogenases / deficiency*
  • 3-Hydroxyacyl CoA Dehydrogenases / genetics*
  • Codon
  • DNA Mutational Analysis
  • Heterozygote
  • Humans
  • Mitochondrial Trifunctional Protein
  • Multienzyme Complexes / metabolism
  • Mutation*
  • Polymerase Chain Reaction
  • Sequence Homology, Amino Acid

Substances

  • Codon
  • Multienzyme Complexes
  • 3-Hydroxyacyl CoA Dehydrogenases
  • Mitochondrial Trifunctional Protein