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.