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Progressive GAA.TTC repeat expansion in human cell lines.

Trinucleotide repeat expansion is the genetic basis for a sizeable group of inherited neurological and neuromuscular disorders. Friedreich ataxia (FRDA) is a relentlessly progressive neurodegenerative disorder caused by GAA.TTC repeat expansion in the first intron of the FXN gene. The expanded repea...

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Autores principales: Scott Ditch, Mimi C Sammarco, Ayan Banerjee, Ed Grabczyk
Formato: Artigo
Lenguaje:Inglês
Publicado: Public Library of Science (PLoS) 2009-10-01
Colección:PLoS Genetics
Acceso en línea:http://europepmc.org/articles/PMC2760145?pdf=render
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