Mitochondrial acetoacetyl-coenzyme A thiolase gene: a novel 68-bp deletion involving 3' splice site of intron 7, causing exon 8 skipping in a Caucasian patient with beta-ketothiolase deficiency

Hum Mutat. 1995;5(1):94-6. doi: 10.1002/humu.1380050113.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acetyl-CoA C-Acetyltransferase / genetics*
  • Acetyl-CoA C-Acyltransferase / deficiency*
  • Amino Acid Metabolism, Inborn Errors / enzymology*
  • Amino Acid Metabolism, Inborn Errors / genetics*
  • Base Sequence
  • Cell Line
  • Child, Preschool
  • DNA / genetics
  • Exons
  • Genotype
  • Humans
  • Introns
  • Male
  • Mitochondria / enzymology
  • Molecular Sequence Data
  • Phenotype
  • Sequence Deletion*

Substances

  • DNA
  • Acetyl-CoA C-Acyltransferase
  • Acetyl-CoA C-Acetyltransferase