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Cardiomyopathy in Friedreich Ataxia: Clinical Findings and Research

Friedreich ataxia is the most common human ataxia and results from inadequate production of the frataxin protein, most often due to a triplet expansion in the nuclear FXN gene. The gene cannot be transcribed to generate the messenger RNA for frataxin. Frataxin is an iron-binding protein targeted to...

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Detalhes bibliográficos
Main Authors: Payne, R. Mark, Wagner, Gregory R.
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3674565/
https://ncbi.nlm.nih.gov/pubmed/22764179
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0883073812448535
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