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Towards an understanding of cognitive function in Friedreich ataxia

✍ Scribed by Louise A. Corben; Nellie Georgiou-Karistianis; Michael C. Fahey; Elsdon Storey; Andrew Churchyard; Malcolm Horne; John L. Bradshaw; Martin B. Delatycki

Book ID
116326451
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
115 KB
Volume
70
Category
Article
ISSN
0361-9230

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Friedreich ataxia is an autosomal recessive disorder caused by mutations in the FRDA gene that encodes a 210-amino acid protein called frataxin. An expansion of a GAA trinucleotide repeat in intron 1 of the gene is present in more than 95% of mutant alleles. Of the 83 people we studied who have muta