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Lateral-flow immunoassay for the frataxin protein in Friedreich’s ataxia patients and carriers

✍ Scribed by John H. Willis; Grazia Isaya; Oleksandr Gakh; Roderick A. Capaldi; Michael F. Marusich


Book ID
116988367
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
394 KB
Volume
94
Category
Article
ISSN
1096-7192

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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