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Liquid Chromatography-High Resolution Mass Spectrometry Analysis of Platelet Frataxin as a Protein Biomarker for the Rare Disease Friedreich’s Ataxia

Friedreich’s ataxia (FA) is an autosomal recessive disease caused by an intronic GAA triplet expansion in the FXN gene, leading to reduced expression of the mitochondrial protein frataxin. FA is estimated to affect 1 in 50 000 with a mean age of death in the fourth decade of life. There are no appro...

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Detalhes bibliográficos
Publicado no:Anal Chem
Main Authors: Guo, Lili, Wang, Qingqing, Weng, Liwei, Hauser, Lauren A., Strawser, Cassandra J., Rocha, Agostinho G., Dancis, Andrew, Mesaros, Clementina, Lynch, David R., Blair, Ian A.
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5817373/
https://ncbi.nlm.nih.gov/pubmed/29272104
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1021/acs.analchem.7b04590
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