Medical genetics: advances in brief: Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion

Antzeko izenburuak

• Medical genetics: advances in brief: Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion
  nork: Barber, John C K
  Argitaratua: (1996)
• Friedreich Ataxia: From GAA Triplet–Repeat Expansion to Frataxin Deficiency
  nork: Patel, Pragna I., et al.
  Argitaratua: (2001)
• Medical genetics: advances in brief: Frataxin gene of Friedreich's ataxia is targeted to mitochondria
  nork: Reid, Evan
  Argitaratua: (1998)
• Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion.
  nork: Bidichandani, S I, et al.
  Argitaratua: (1997)
• Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia
  nork: Pollard, Laura M., et al.
  Argitaratua: (2004)