Fig. 4 |. Polymorphic configurations of the repeat expansion locus and allelic distribution in healthy controls.
a, Schematic representation of the repeat expansion locus in intron 2 of RFC1 and its main allelic variants. b, Estimated allelic frequencies in 608 chromosomes from 304 healthy controls. c, Average size and s.d. of (AAAAG)exp (n = 24) and (AAAGG)exp (n = 30) expansions in healthy controls and (AAGGG)exp (n = 72) in controls and CANVAS patients.