3-Ketothiolase deficiency: molecular heterogeneity of the enzyme defect and cloning of the cDNA.
Yamaguchi
S
S
Department of Pediatrics, Gifu University School of Medicine, Japan.
Fukao
T
T
Nagasawa
H
H
Orii
T
T
Sakura
N
N
Schutgens
R B
RB
Sweetman
L
L
Fujiki
Y
Y
Kamijo
K
K
Osumi
T
T
D000101:Acetyl-CoA C-Acetyltransferase / Q000096:biosynthesis / Q000235:genetics*; D000123:Acetyltransferases / Q000235:genetics*; D000595:Amino Acid Sequence; D015153:Blotting, Western; D002648:Child; D002675:Child, Preschool; D003001:Cloning, Molecular; D004247:DNA / Q000235:genetics; D005260:Female; D005347:Fibroblasts; D006801:Humans; D007223:Infant; D007662:Ketosis / Q000235:genetics; D008297:Male; D008928:Mitochondria / Q000201:enzymology*; D008969:Molecular Sequence Data; D009154:Mutation
D004247:DNA; D000123:Acetyltransferases; D000101:Acetyl-CoA C-Acetyltransferase