Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion.

Samankaltaisia teoksia

• The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure.
  Tekijä: Bidichandani, S I, et al.
  Julkaistu: (1998)
• Friedreich Ataxia: From GAA Triplet–Repeat Expansion to Frataxin Deficiency
  Tekijä: Patel, Pragna I., et al.
  Julkaistu: (2001)
• Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia
  Tekijä: Pollard, Laura M., et al.
  Julkaistu: (2004)
• Medical genetics: advances in brief: Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion
  Tekijä: Reid, Evan
  Julkaistu: (1997)
• Large-scale expansions of Friedreich’s ataxia GAA repeats in yeast
  Tekijä: Shishkin, Alexander A., et al.
  Julkaistu: (2009)