Frataxin levels in peripheral tissue in Friedreich ataxia

OBJECTIVE: Friedreich ataxia (FRDA) is an autosomal recessive ataxia resulting from mutations in the frataxin gene (FXN). Such mutations, usually expanded guanine–adenine–adenine (GAA) repeats, give rise to decreased levels of frataxin protein in both affected and unaffected tissues. The goal was to...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Ann Clin Transl Neurol
Egile Nagusiak: Lazaropoulos, Michael, Dong, Yina, Clark, Elisia, Greeley, Nathaniel R, Seyer, Lauren A, Brigatti, Karlla W, Christie, Carlton, Perlman, Susan L, Wilmot, George R, Gomez, Christoper M, Mathews, Katherine D, Yoon, Grace, Zesiewicz, Theresa, Hoyle, Chad, Subramony, Sub H, Brocht, Alicia F, Farmer, Jennifer M, Wilson, Robert B, Deutsch, Eric C, Lynch, David R
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: John Wiley & Sons, Ltd 2015
Gaiak:
Research Articles
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4554444/
https://ncbi.nlm.nih.gov/pubmed/26339677
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.225
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