Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2000153 | Molecular Genetics and Metabolism | 2007 | 4 Pages |
Abstract
A tandem repeat of exons 8 and 9 was identified in the cDNA for mitochondrial acetoacetyl-CoA thiolase (T2) in a typical T2 deficient patient. Routine mutation analysis using PCR at the genomic level had failed to identify any mutations. Alu element-mediated unequal homologous recombination between an Alu-Jo in intron 7 and another Alu-Jo in intron 9 appears to be responsible for this duplication.
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Authors
Toshiyuki Fukao, Gaixiu Zhang, Marie-Odile Rolland, Marie-Therese Zabot, Nathalie Guffon, Yusuke Aoki, Naomi Kondo,