Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency.

Lignende værker

• Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiency.
  af: Fukao, T, et al.
  Udgivet: (1990)
• Defect in biosynthesis of mitochondrial acetoacetyl-coenzyme A thiolase in cultured fibroblasts from a boy with 3-ketothiolase deficiency.
  af: Yamaguchi, S, et al.
  Udgivet: (1988)
• Identification of a novel exonic mutation at -13 from 5' splice site causing exon skipping in a girl with mitochondrial acetoacetyl-coenzyme A thiolase deficiency.
  af: Fukao, T, et al.
  Udgivet: (1994)
• Effects of starvation and development on mitochondrial acetoacetyl-coenzyme A thiolase of rat liver.
  af: Reed, W D, et al.
  Udgivet: (1977)
• Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl‐CoA thiolase (T2) deficiency
  af: Abdelkreem, Elsayed, et al.
  Udgivet: (2019)