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

OBJECTIVE: Friedreich’s ataxia is the most common form of hereditary ataxia with autosomal recessive pattern. More than 96% of patients are homozygous for GAA repeat extension on both alleles in the first intron of FXN gene and the remaining patients have been shown to be heterozygous for a GAA exte...

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Hlavní autoři: HEIDARI, Mohammad Mehdi, KHATAMI, Mehri, POURAKRAMI, Jafar
Médium: Artigo
Jazyk:Inglês
Vydáno: Shahid Beheshti University of Medical Sciences 2014
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3943053/
https://ncbi.nlm.nih.gov/pubmed/24665325
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