Article
[Molecular and genetic features of fragile X syndrome].
Revista medica de Chile - 1 Jul 1996
Jara L, Avendaño I, Aspillaga M, Blanco R
Abstract excerpt
The fragile-X syndrome is the most frequent cause of sexlinked mental retardation. In the majority of the cases the mutation responsible for the Martin Bell syndrome is produced when an expansion of the (CGG)n repetition is present in the region 5' of the exón 1 of the gene for X-fragile mental r...
Topics
- Chromosome Mapping
- Female
- Fragile X Syndrome
- Genetic Markers
- Humans
- Male
- Mutation
- Trinucleotide Repeats
