Mitochondrial acetoacetyl-coenzyme A thiolase gene: a novel 68-bp deletion involving 3' splice site of intron 7, causing exon 8 skipping in a Caucasian patient with beta-ketothiolase deficiency.
Fukao
T
T
Department of Pediatrics, Gifu University School of Medicine, Japan.
Song
X Q
XQ
Yamaguchi
S
S
Orii
T
T
Wanders
R J
RJ
Poll-The
B T
BT
Hashimoto
T
T
D000101:Acetyl-CoA C-Acetyltransferase / Q000235:genetics*; D000102:Acetyl-CoA C-Acyltransferase / Q000172:deficiency*; D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology* / Q000235:genetics*; D001483:Base Sequence; D002460:Cell Line; D002675:Child, Preschool; D004247:DNA / Q000235:genetics; D005091:Exons; D005838:Genotype; D006801:Humans; D007438:Introns; D008297:Male; D008928:Mitochondria / Q000201:enzymology; D008969:Molecular Sequence Data; D010641:Phenotype; D017384:Sequence Deletion
D004247:DNA; D000102:Acetyl-CoA C-Acyltransferase; D000101:Acetyl-CoA C-Acetyltransferase