• Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[570]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=27002638; PubMed=29125828).
  
• Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[1200]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=27002638; PubMed=29125828).
  

PubMed=25758173; DOI=10.1038/mt.2015.41; PMCID=PMC4817761
Li Y.-J., Polak U., Bhalla A.D., Rozwadowska N., Butler J.S., Lynch D.R., Dent S.Y.R., Napierala M.
Excision of expanded GAA repeats alleviates the molecular phenotype of Friedreich's ataxia.
Mol. Ther. 23:1055-1065(2015)

PubMed=27002638; DOI=10.1089/bio.2015.0117; PMCID=PMC4991587
Li Y.-J., Polak U., Clark A.D., Bhalla A.D., Chen Y.-Y., Li J.-X., Farmer J., Seyer L., Lynch D.R., Butler J.S., Napierala M.
Establishment and maintenance of primary fibroblast repositories for rare diseases -- Friedreich's ataxia example.
Biopreserv. Biobank. 14:324-329(2016)

PubMed=29125828; DOI=10.1242/dmm.030536; PMCID=PMC5719256
Napierala J.S., Li Y.-J., Lu Y., Lin K., Hauser L.A., Lynch D.R., Napierala M.
Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers.
Dis. Model. Mech. 10:1353-1369(2017)