15 Correction of established neurologic disease and evidences of in vivo cross correction in the mouse model of metachromatic leukodystrophy
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- 作者：Aless ; ra Biffi ; Alessia Capotondo ; Stefania Fasano ; Ubaldo del Carro ; Sergio Marchesini ; Riccardo Brambilla ; Marcus Grompe ; Claudio Bordignon ; Angelo Quattrini ; Luigi Naldini
- 关键词：T2 ; Duplication ; Alu elements ; Recombination
- 刊名：Molecular Genetics and Metabolism
- 出版年：2007
- 出版时间：December 2007
- 年：2007
- 卷：92
- 期：4
- 页码：14-15
- 全文大小：54 K
文摘
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.