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...

Descrición completa

Gardado en:
Detalles Bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado: 2013
Assuntos:
Article
Acceso en liña: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
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares