Demographics, neurological data, frataxin protein and FXN mRNA levels in pFA. Frataxin protein % and FXN mRNA levels % are expressed as relative to the control group.

Figshare2015-12-02 更新10

Mutational characteristics of patients.

Figshare2016-02-23 更新00

Point mutations detected by pooled DNA sequencing in the cohort of 480 patients.

Control frequency refers to the allele frequency of the same variant in the subjects included in the ExAC database (60,706 unrelated individuals). Progenitor phenotype refers only to the progenitor ca

Figshare2017-05-24 更新00

Point mutation FA patients.