Rescue of the Friedreich Ataxia Knockout Mutation in Transgenic Mice Containing an FXN-EGFP Genomic Reporter

Rescue of the Friedreich Ataxia Knockout Mutation in Transgenic Mice Containing an FXN-EGFP Genomic Reporter . Joseph P. Sarsero, Timothy P. Holloway, Lingli Li, David I. Finkelstein, Panos A. Ioanno; PLoS ONE 9(3): e93307. doi:10.1371/journal.pone.0093307

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Novel Point Mutations in Frataxin Gene in Iranian Patients with Friedreich’s Ataxia

Novel Point Mutations in Frataxin Gene in Iranian Patients with Friedreich’s Ataxia. Heidari MM , Khatami M, Pourakrami J.; Iran J Child Neurol. 2014 Winter; 8(1):32-36.

Three novel point mutations were found in patients heterozygous for the GAA repeat expansion, p.S81A, p.Y123D, and p.S192C.