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Deferiprone targets aconitase: Implication for Friedreich's ataxia treatment

✍ Scribed by Sergio Goncalves; Vincent Paupe; Emmanuel P Dassa; Pierre Rustin

Book ID
115009506
Publisher
BioMed Central
Year
2008
Tongue
English
Weight
241 KB
Volume
8
Category
Article
ISSN
1471-2377

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Approximately 95% of all Friedreich's ataxia (FA) patients are homozygous for a large GAA triplet-repeat expansion in the first intron of the Friedreich's ataxia gene (FRDA). The remaining cases are expected to be compound heterozygous with a GAA expansion on one allele and a point mutation on the o