A novel single-base substitution (380C>T) that activates a 5-base downstream cryptic splice-acceptor site within exon 5 in almost all transcripts in the human mitochondrial acetoacetyl-CoA thiolase gene. [electronic resource]
Producer: 20010426Description: 115-21 p. digitalISSN:- 1096-7192
- Acetyl-CoA C-Acyltransferase -- deficiency
- Binding Sites
- Cysteine -- chemistry
- DNA Mutational Analysis
- Exons
- Female
- Fibroblasts -- metabolism
- Gene Deletion
- Humans
- Immunoblotting
- Introns
- Metabolism, Inborn Errors -- genetics
- Mitochondria -- enzymology
- Models, Genetic
- Mutation
- Point Mutation
- RNA Splice Sites
- RNA Splicing
- RNA, Messenger -- metabolism
- Reverse Transcriptase Polymerase Chain Reaction
- Transfection
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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