Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Clinical exome sequencing elucidates underlying cause of death in sudden unexpected death of infants: two case reports.
Heathfield LJ et al.
International Journal of Legal Medicine, 2024
A Case of Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Presenting with Severe Acidosis in a 14-Month-Old Female: Evidence for Pathogenicity of a Point Mutation in the OXCT1 Gene.
Zheng DJ et al.
Journal of Pediatric Intensive Care, 2018
Ketone body metabolism and its defects.
Fukao T et al.
Journal of Inherited Metabolic Disease, 2014
A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.
Shafqat N et al.
Journal of Inherited Metabolic Disease, 2013
Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.
Fukao T et al.
Biochimica Et Biophysica Acta, 2011
A neonatal-onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene.
Fukao T et al.
Journal of Inherited Metabolic Disease, 2010
Identification and characterization of a temperature-sensitive R268H mutation in the human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene.
Fukao T et al.
Molecular Genetics and Metabolism, 2007
Patients homozygous for the T435N mutation of succinyl-CoA:3-ketoacid CoA Transferase (SCOT) do not show permanent ketosis.
Fukao T et al.
Pediatric Research, 2004
Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblings.
Song XQ et al.
Human Mutation, 1998
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