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Clinical Monitoring in a Patient with Friedreich Ataxia and Osteogenic Sarcoma

Friedreich ataxia is an autosomal recessive neurodegenerative disorder caused by mutations in the FXN gene that result in abnormally low levels of the mitochondrial protein frataxin. We recently used a lateral flow immunoassay to measure frataxin levels in a large cohort of controls, carriers, and p...

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Autori principali: Deutsch, Eric C., Seyer, Lauren A., Perlman, Susan L., Yu, Jeanette, Lynch, David R.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2012
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3674811/
https://ncbi.nlm.nih.gov/pubmed/22752483
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0883073812448460
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