Article
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.
Human mutation - 1 Jan 1995
Fukao T, Song X Q, Yamaguchi S, Orii T, Wanders R J, Poll-The B T, Hashimoto T
Abstract excerpt
No abstract is available from the source.
Topics
- Acetyl-CoA C-Acetyltransferase
- Acetyl-CoA C-Acyltransferase
- Amino Acid Metabolism, Inborn Errors
- Base Sequence
- Cell Line
- Child, Preschool
- DNA
- Exons
- Genotype
- Humans
- Introns
- Male
- Mitochondria
- Molecular Sequence Data