3-Ketothiolase deficiency: molecular heterogeneity of the enzyme defect and cloning of the cDNA

Prog Clin Biol Res. 1990:321:673-9.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Acetyl-CoA C-Acetyltransferase / biosynthesis
  • Acetyl-CoA C-Acetyltransferase / genetics*
  • Acetyltransferases / genetics*
  • Amino Acid Sequence
  • Blotting, Western
  • Child
  • Child, Preschool
  • Cloning, Molecular
  • DNA / genetics
  • Female
  • Fibroblasts
  • Humans
  • Infant
  • Ketosis / genetics
  • Male
  • Mitochondria / enzymology*
  • Molecular Sequence Data
  • Mutation

Substances

  • DNA
  • Acetyltransferases
  • Acetyl-CoA C-Acetyltransferase