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Long Range Regulation of Human FXN Gene Expression

BACKGROUND: Friedreich ataxia (FRDA) is the most common form of hereditary ataxia characterized by the presence of a GAA trinucleotide repeat expansion within the first intron of the FXN gene. The expansion inhibits FXN gene expression resulting in an insufficiency of frataxin protein. METHODOLOGY/P...

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Detalles Bibliográficos
Autores principales: Puspasari, Novita, Rowley, Simone M., Gordon, Lavinia, Lockhart, Paul J., Ioannou, Panos A., Delatycki, Martin B., Sarsero, Joseph P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3132285/
https://www.ncbi.nlm.nih.gov/pubmed/21760943
http://dx.doi.org/10.1371/journal.pone.0022001