Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia

Friedreich ataxia (FRDA), the most common hereditary ataxia, is caused by mutations in the frataxin (FXN) gene. The vast majority of FRDA mutations involve expansion of a GAA•TTC-repeat tract in intron 1, which leads to an FXN mRNA deficit. Bisulfite mapping demonstrates that the region adjacent to...

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Bibliografske podrobnosti
Main Authors: Greene, Eriko, Mahishi, Lata, Entezam, Ali, Kumari, Daman, Usdin, Karen
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2007
Teme:
Genomics
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1904289/
https://ncbi.nlm.nih.gov/pubmed/17478498
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkm271
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