Article
Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat.
American journal of human genetics - 1 Jul 1997
Monrós E, Moltó M D, Martínez F, Cañizares J, Blanca J, Vílchez J J, Prieto F, de Frutos R, Palau F
Abstract excerpt
The Friedreich ataxia (FA) mutation has recently been identified as an unstable trinucleotide GAA repeat present 7-22 times in the normal population but amplified as many as > 1,000 times in FA. Since it is an autosomal recessive disease, FA does not show typical features observed in other dynami...
Topics
- Adolescent
- Child
- Friedreich Ataxia
- Gene Amplification
- Genetic Linkage
- Humans
- Mutation
- Phenotype
- Trinucleotide Repeats