High-Throughput Immunoassay for the Biochemical Diagnosis of Friedreich Ataxia in Dried Blood Spots and Whole Blood

BACKGROUND: Friedreich ataxia (FRDA) is caused by reduced frataxin (FXN) concentrations. A clinical diagnosis is typically confirmed by DNA-based assays for GAA-repeat expansions or mutations in the FXN (frataxin) gene; however, these assays are not applicable to therapeutic monitoring and populatio...

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Hauptverfasser: Oglesbee, Devin, Kroll, Charles, Gakh, Oleksandr, Deutsch, Eric C., Lynch, David R., Gavrilova, Ralitza, Tortorelli, Silvia, Raymond, Kimiyo, Gavrilov, Dimitar, Rinaldo, Piero, Matern, Dietrich, Isaya, Grazia
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2013
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3914541/
https://ncbi.nlm.nih.gov/pubmed/23838345
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1373/clinchem.2013.207472
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