Article
Molecular genetics of the fragile-X syndrome: a novel type of unstable mutation.
Current opinion in genetics & development - 1 Jun 1992
Mandel J L, Heitz D
Abstract excerpt
Fragile-X syndrome, the most common inherited form of mental retardation, has a very unusual mode of inheritance. The disease is caused by a multistep expansion, in successive generations, of a polymorphic CGG repeat localized in a 5' exon of FMR-1, a gene of unknown function. Two main mutation types have been categorized. Premutations are moderate expansions of the repeat and do not cause mental retardation....
Topics
- Cloning, Molecular
- Fragile X Syndrome
- Humans
- Methylation
- Mutation
- X Chromosome