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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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書目詳細資料
Main Authors: Deutsch, Eric C., Seyer, Lauren A., Perlman, Susan L., Yu, Jeanette, Lynch, David R.
格式: Artigo
語言:Inglês
出版: 2012
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在線閱讀: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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