Molecular basis of 3-ketothiolase deficiency: detection of gene mutations and expression of mutant cDNAs of mitochondrial acetoacetyl-CoA thiolase.
Fukao
T
T
Department of Pediatrics, Gifu University School of Medicine, Japan.
Yamaguchi
S
S
Wakazono
A
A
Okamoto
H
H
Orii
T
T
Osumi
T
T
Hashimoto
T
T
D000101:Acetyl-CoA C-Acetyltransferase / Q000235:genetics*; D000102:Acetyl-CoA C-Acyltransferase / Q000172:deficiency* / Q000235:genetics; D002460:Cell Line; D004247:DNA / Q000235:genetics*; D015971:Gene Expression Regulation, Enzymologic; D005822:Genetic Vectors; D006579:Heterozygote; D006801:Humans; D015151:Immunoblotting; D008928:Mitochondria / Q000201:enzymology*; D009154:Mutation; D013539:Simian virus 40 / Q000235:genetics; D014162:Transfection
D004247:DNA; D000102:Acetyl-CoA C-Acyltransferase; D000101:Acetyl-CoA C-Acetyltransferase