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Frataxin and frataxin deficiency in Friedreich's ataxia

✍ Scribed by Robert B Wilson

Book ID
119465829
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
69 KB
Volume
207
Category
Article
ISSN
0022-510X

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Correlation of frataxin content in blood
Correlation of frataxin content in blood and skeletal muscle endorses frataxin as a biomarker in Friedreich ataxia
✍ Wolfgang Nachbauer; Julia Wanschitz; Hannes Steinkellner; Andreas Eigentler; Bri πŸ“‚ Article πŸ“… 2011 πŸ› John Wiley and Sons 🌐 English βš– 678 KB

## Abstract ## Background: Friedreich ataxia is an autosomal recessive disorder caused by mutations in the __frataxin__ gene, leading to reduced levels of the mitochondrial protein frataxin. Assays to quantitatively measure frataxin in peripheral blood have been established. To determine the valid