Identification of three novel frameshift mutations (83delAT, 754insCT, and 435 + 1G to A) of mitochondrial acetoacetyl-coenzyme A thiolase gene in two Swiss patients with CRM-negative beta-ketothiolase deficiency

Hum Mutat. 1997;9(3):277-9. doi: 10.1002/(SICI)1098-1004(1997)9:3<277::AID-HUMU11>3.0.CO;2-#.
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*
  • DNA Mutational Analysis
  • Exons
  • Female
  • Frameshift Mutation*
  • Humans
  • Immunoblotting
  • Infant
  • Male
  • Metabolism, Inborn Errors / diagnosis
  • Metabolism, Inborn Errors / genetics*
  • Metabolism, Inborn Errors / therapy
  • Mitochondria / enzymology
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational

Substances

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