Evidence for chromosome fragility at the frataxin locus in Friedreich ataxia
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- 作者：Daman Kumaria ; Bruce Haywarda ; Asako J. Nakamurab ; 1 ; William M. Bonnerb ; Karen Usdina ; ku@helix.nih.gov" class="auth_mail" title="E-mail the corresponding author
- 关键词：Friedreich ataxia ; FXN ; Frataxin ; Repeat expansion ; GAA/TTC-triplet repeat ; Chromosome fragility
- 刊名：Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis
- 出版年：2015
- 出版时间：November 2015
- 年：2015
- 卷：781
- 期：Complete
- 页码：14-21
- 全文大小：2162 K
文摘
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The region of chromosome 9 that contains the Frataxin (FXN) locus is prone to breakage and rearrangements.
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Friedreich ataxia (FRDA) is caused by a GAA/TTC-repeat expansion in the FXN gene
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FRDA alleles are prone to chromosome rearrangements induced by an ATM inhibitor.