Browsing by Subject "Expansion of unstable repeats"

Now showing items 1-1 of 1

    • Clinical and molecular studies in five brazilian cases of Friedreich ataxia 

      Schwartz, Ida Vanessa Doederlein; Jardim, Laura Bannach; Puga, Ana Cristina Scheidt; Leistner-Segal, Sandra (1999) [Journal article]
      Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in 94% of cases by homozygous expansions of an unstable GAA repeat localised in intron 1 of the X25 gene. We have investigated this mutation ...