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
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