Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a new method to identify the G1528C mutation in genomic DNA showing its high frequency (approximately 90%) and identification of a new mutation (T2198C)

J Inherit Metab Dis. 1996;19(2):165-8. doi: 10.1007/BF01799420.
No abstract available

MeSH terms

  • 3-Hydroxyacyl CoA Dehydrogenases / deficiency*
  • 3-Hydroxyacyl CoA Dehydrogenases / genetics*
  • Base Sequence
  • Cells, Cultured
  • DNA Mutational Analysis*
  • Deoxyribonucleases, Type II Site-Specific
  • Heterozygote
  • Homozygote
  • Humans
  • Molecular Sequence Data
  • Mutation
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length

Substances

  • 3-Hydroxyacyl CoA Dehydrogenases
  • Deoxyribonucleases, Type II Site-Specific
  • GGCC-specific type II deoxyribonucleases