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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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Main Authors: Deutsch, Eric C., Seyer, Lauren A., Perlman, Susan L., Yu, Jeanette, Lynch, David R.
Format: Artigo
Jezik:Inglês
Izdano: 2012
Teme:
Online dostop: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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