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]

By: Contributor(s): Producer: 20010426Description: 115-21 p. digitalISSN:
  • 1096-7192
Subject(s): Online resources: In: Molecular genetics and metabolism vol. 72
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

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