Citations for
Single-base substitution at the last nucleotide of exon 6 (c.671G>A), resulting in the skipping of exon 6, and exons 6 and 7 in human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene.
Yamada K, Fukao T, Zhang G, Sakurai S, Ruiter JP, Wanders RJ, Kondo N.
Mol Genet Metab 90(3):291-7. Epub 2006 Dec 13. 2007
Identification and characterization of a temperature-sensitive R268H mutation in the human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene.
Fukao T, Kursula P, Owen EP, Kondo N.
Mol Genet Metab 92(3):216-21. Epub 2007 Aug 13. 2007
A 6-bp deletion at the splice donor site of the first intron resulted in aberrant splicing using a cryptic splice site within exon 1 in a patient with succinyl-CoA: 3-Ketoacid CoA transferase (SCOT) deficiency.
Fukao T, Sakurai S, Rolland MO, Zabot MT, Schulze A, Yamada K, Kondo N.
Mol Genet Metab 89(3):280-2. Epub 2006 Jun 12. 2006
Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations.
Fukao T, Mitchell GA, Song XQ, Nakamura H, Kassovska-Bratinova S, Orii KE, Wraith JE, Besley G, Wanders RJ, Niezen-Koning KE, Berry GT, Palmieri M, Kondo N.
Genomics 68(2):144-51. 2000
Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblings.
Song XQ, et al.
Hum Mutat 12 : 83-88. 1998
Succinyl CoA : 3-Oxoacid CoA transferase (SCOT) : human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patient.
Kassovska-Bratinova S, et al.
Am J Hum Genet 59 : 519-528. 1996
Succinyl CoA:3-ketoacid CoA Transferase (SCOT) : cloning of human myocardial SCOT cDNAs and sequence analysis. (abstr)
Kassovska-Bratinova S, et al.
Am J Hum Genet 53 : 910. 1993
Sequence of a cDNA clone encoding pig heart mitochondrial CoA transferase.
Lin T, et al.
J Biol Chem 267 : 975-978. 1992