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.
Fukao
T
T
Department of Pediatrics, Gifu University School of Medicine, Japan.
Song
X Q
XQ
Yamaguchi
S
S
Kondo
N
N
Orii
T
T
Matthieu
J M
JM
Bachmann
C
C
Hashimoto
T
T
D000101:Acetyl-CoA C-Acetyltransferase / Q000235:genetics*; D000102:Acetyl-CoA C-Acyltransferase / Q000172:deficiency*; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D015151:Immunoblotting; D007223:Infant; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D008928:Mitochondria / Q000201:enzymology; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational
D000102:Acetyl-CoA C-Acyltransferase; D000101:Acetyl-CoA C-Acetyltransferase