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Differences in the determinants of right ventricular and regional left ventricular long-axis dysfunction in Friedreich ataxia

BACKGROUND: Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative condition which also has effects on the heart. In 96% of affected individuals FRDA is due to homozygosity of a GAA repeat expansion in intron 1 of the frataxin (FXN) gene. The number of GAA repeats have been shown to re...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Peverill, Roger E., Donelan, Lesley, Corben, Louise A., Delatycki, Martin B.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2018
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6312254/
https://ncbi.nlm.nih.gov/pubmed/30596685
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0209410
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